Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704479 | SCV000531047 | likely benign | not provided | 2018-09-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000530793 | SCV000651157 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379359 | SCV002672546 | likely benign | Cardiovascular phenotype | 2019-04-15 | 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. |