Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039863 | SCV000063554 | benign | not specified | 2012-01-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000039863 | SCV000114324 | likely benign | not specified | 2015-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000039863 | SCV000515092 | benign | not specified | 2015-08-14 | 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 | RCV000462177 | SCV000555329 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000039863 | SCV000615997 | benign | not specified | 2016-10-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811281 | SCV002049184 | benign | not provided | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839484 | SCV002100743 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839485 | SCV002100744 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839486 | SCV002100745 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839483 | SCV002100746 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |