Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085759 | SCV000651140 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000529540 | SCV001155278 | likely benign | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000529540 | SCV001805403 | likely benign | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367924 | SCV002666143 | likely benign | Cardiovascular phenotype | 2019-01-23 | 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. |
Clinical Genetics, |
RCV001700215 | SCV001918359 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000529540 | SCV001928994 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000529540 | SCV001956873 | likely benign | not provided | no assertion criteria provided | clinical testing |