Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003328274 | SCV001142253 | benign | CDH1-related diffuse gastric and lobular breast cancer syndrome | 2023-08-08 | reviewed by expert panel | curation | The c.1937-423G>A variant is an intronic variant within intron 12. The variant has an allele frequency of 0.00289 (89/30842) in gnomAD (BA1; http://gnomad.broadinstitute.org). The allele is observed exclusively in the African subpopulation, with a frequency of 0.01022 (89/8708) and including one homozygote, suggesting that it may be a polymorphism in this population. In summary, this variant meets criteria to be classified as benign based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BA1. |
University of Washington Department of Laboratory Medicine, |
RCV000209222 | SCV000265092 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-01 | no assertion criteria provided | clinical testing |