Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246779 | SCV000307936 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001702388 | SCV000526276 | benign | not provided | 2020-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000532267 | SCV000650931 | 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 | |
Athena Diagnostics | RCV000246779 | SCV001879769 | benign | not specified | 2021-02-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418081 | SCV002728968 | likely benign | Cardiovascular phenotype | 2019-09-06 | 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. |
Ce |
RCV001702388 | SCV004010720 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | FLNC: BS1 |
Clinical Genetics, |
RCV000246779 | SCV001924370 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001702388 | SCV001932844 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001702388 | SCV001979678 | likely benign | not provided | no assertion criteria provided | clinical testing |