Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328275 | SCV001142250 | benign | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-08 | reviewed by expert panel | curation | The c.1137+86T>G variant has an allele frequency of 0.0165 (1.65%, 144/8728 alleles) in the African subpopulation of the gnomAD cohort (BA1). Therefore, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1. |
Gene |
RCV001553291 | SCV001774138 | likely benign | not provided | 2018-06-28 | criteria provided, single submitter | clinical testing | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000991091 | SCV003926738 | benign | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BA1 (PMID: 30311375) |
Breakthrough Genomics, |
RCV001553291 | SCV005248467 | benign | not provided | criteria provided, single submitter | not provided | ||
University of Washington Department of Laboratory Medicine, |
RCV000208935 | SCV000265094 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-01 | no assertion criteria provided | clinical testing |