Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726175 | SCV000237388 | likely benign | not provided | 2021-04-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30847666) |
Labcorp Genetics |
RCV000559556 | SCV000643485 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-09 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726175 | SCV000701283 | uncertain significance | not provided | 2017-02-08 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798652 | SCV002042582 | likely benign | Cardiomyopathy | 2023-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453680 | SCV002615002 | likely benign | Cardiovascular phenotype | 2020-06-10 | 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, |
RCV000726175 | SCV001920932 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000726175 | SCV001957050 | uncertain significance | not provided | no assertion criteria provided | clinical testing |