Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001293506 | SCV001482093 | likely benign | not specified | 2021-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064588 | SCV002342466 | likely benign | Myofibrillar myopathy 4 | 2022-09-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442835 | SCV002682989 | likely benign | Cardiovascular phenotype | 2021-10-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |