Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721310 | SCV000528696 | likely benign | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000530478 | SCV000651120 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001721310 | SCV002497553 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BP7 |
Ambry Genetics | RCV002365534 | SCV002658948 | likely benign | Cardiovascular phenotype | 2019-08-27 | 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. |