Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192377 | SCV001360446 | likely benign | not specified | 2020-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002560152 | SCV002960635 | likely benign | Hypertrophic cardiomyopathy 14 | 2022-05-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163484 | SCV003906581 | likely benign | Cardiovascular phenotype | 2022-12-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |