Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000884051 | SCV000535379 | likely benign | not provided | 2020-12-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001403259 | SCV001605124 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348250 | SCV002623299 | likely benign | Cardiovascular phenotype | 2021-03-07 | 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. |