Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086468 | SCV000650954 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000841661 | SCV000983640 | benign | not provided | 2021-06-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000841661 | SCV002497558 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BP7 |
Ambry Genetics | RCV002456213 | SCV002738872 | likely benign | Cardiovascular phenotype | 2018-12-28 | 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, |
RCV003330786 | SCV004038074 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |