Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041093 | SCV000064784 | benign | not specified | 2012-03-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000041093 | SCV000169576 | benign | not specified | 2012-10-19 | 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 |
RCV000041093 | SCV000307153 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000620728 | SCV000734995 | 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: 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. |
Invitae | RCV001511356 | SCV001718581 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839801 | SCV002100840 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839802 | SCV002100842 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839803 | SCV002100843 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839800 | SCV002100844 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |