Clingen cdh1
WebApr 20, 2024 · NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) AND not specified. Clinical significance: Likely benign (Last evaluated: Apr 20, 2024) Review status: ... WebClinVar archives and aggregates information about relationships among variation and human health.
Clingen cdh1
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WebDec 11, 2024 · Most recently, the Clingen CDH1 variant curation expert panel has classified this variant as benign based solely on its allele frequency in the East Asian population (ACMG, BA1). Based on the evidence outlined above, the variant was classified as benign. OK. Comment: This variant is associated with the following publications: (PMID: … WebNCBI Ensembl UCSC. GRCh38/hg38: chr2:64524328-64593005. NCBI Ensembl UCSC. Curation Summaries. Status and Future Work 0. External Genomic Resources. ClinVar Variants. ClinGen has not yet published curations for AFTPH (HGNC:25951).
WebHere, we describe the CDH1 specifications of the ACMG/AMP guidelines, which were developed and validated after a systematic evaluation of variantsobtained from a cohort … WebCDH1 Variant Curation Expert Panel. Pathogenic germline variants in CDH1 have been associated with hereditary diffuse gastric cancer (HDGC, MIM# 137215), an autosomal dominant cancer predisposition syndrome. …
WebClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1. Curation Activity Procedures - March 29, 2024 -Summary of changes from Version 3: (1) Specification of PM5_Supporting to nonsense and frameshift variants that are predicted/proved to undergo nonsense-mediated decay ... WebHere, we describe the work performed by the Clinical Genome Resource TP53 Variant Curation Expert Panel (ClinGen TP53 VCEP) focused on specifying the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines for germline variant classification to the TP53 gene. ...
WebNov 1, 2024 · PDF Purpose: The Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel (VCEP) developed specifications for CDH1 variant curation with...
WebClinVar archives and aggregates information about relationships among variation and human health. dickson thdx manualWebClinVar archives and aggregates information about relationships among variation and human health. city and county of honolulu marriage recordsWebNM_004360.5(CDH1):c.531+10G>C AND Hereditary diffuse gastric adenocarcinoma. Clinical significance: Benign (Last evaluated: Feb 18, 2024) Review status: ... dickson timberWebThe ClinGen CDH1 VCEP recommends the use of these CDH1-specific guidelines for the assessment and classification of variants identified in this clinically actionable gene. Keywords: ACMG/AMP Variant Curation Guidelines; CDH1; ClinGen; ClinVar; hereditary diffuse gastric cancer; lobular breast cancer. city and county of honolulu logoWebThe ClinGen CDH1 VCEP recommends the use of these CDH1-specific guidelines for the assessment and classification of variants identified in this clinically actionable gene. … city and county of honolulu luoWebNov 1, 2024 · ClinGen CDH1 specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelines Xi Luo1*, Jamie L. Maciaszek2*, Bryony A. Thompson3, Huei San Leong4, Katherine Dixon5, Sónia Sousa6, Michael Anderson7, Maegan E. Roberts8, Kristy Lee 9, Amanda B. Spurdle10, Arjen R. … dickson the financial revolution in englandWebThe Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel (VCEP) developed specifications for CDH1 variant curation with a goal to resolve variants of … dickson theater