Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000225704 | SCV000169223 | benign | not specified | 2014-03-20 | 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 | RCV000228990 | SCV000286573 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000225704 | SCV000337822 | benign | not specified | 2015-12-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000225704 | SCV000616058 | benign | not specified | 2017-05-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000225704 | SCV001372333 | benign | not specified | 2020-06-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839879 | SCV002101811 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839880 | SCV002101812 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839881 | SCV002101813 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839878 | SCV002101814 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |