Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087391 | SCV000771053 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000649228 | SCV001143945 | benign | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000649228 | SCV001794147 | likely benign | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358864 | SCV002655469 | likely benign | Cardiovascular phenotype | 2021-03-15 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003488763 | SCV004241453 | benign | not specified | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000649228 | SCV004701646 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BP7 |