Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125859 | SCV000169331 | benign | not specified | 2014-03-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001087910 | SCV000286786 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726514 | SCV000345175 | uncertain significance | not provided | 2016-09-16 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000726514 | SCV001146464 | benign | not provided | 2018-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362759 | SCV002623890 | likely benign | Cardiovascular phenotype | 2019-07-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Revvity Omics, |
RCV000726514 | SCV003819858 | uncertain significance | not provided | 2023-12-26 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149860 | SCV003837983 | likely benign | Cardiomyopathy | 2022-11-30 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000726514 | SCV001741172 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000125859 | SCV001921466 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000726514 | SCV001973528 | likely benign | not provided | no assertion criteria provided | clinical testing |