Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000041076 | SCV000051631 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000041076 | SCV000064767 | benign | not specified | 2011-09-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000041076 | SCV000169570 | benign | not specified | 2012-10-26 | 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. |
Prevention |
RCV000041076 | SCV000307150 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000619046 | SCV000734951 | benign | Cardiovascular phenotype | 2015-04-20 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Athena Diagnostics Inc | RCV000993383 | SCV001146314 | benign | not provided | 2018-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001521506 | SCV001730863 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839777 | SCV002100880 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839778 | SCV002100881 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839779 | SCV002100882 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839776 | SCV002100883 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |