Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039879 | SCV000063570 | benign | not specified | 2012-01-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000039879 | SCV000114329 | likely benign | not specified | 2015-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000039879 | SCV000516618 | benign | not specified | 2016-04-13 | 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 | RCV000459807 | SCV000555160 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000039879 | SCV000616004 | benign | not specified | 2016-10-28 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170870 | SCV001333491 | benign | Cardiomyopathy | 2018-04-12 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811282 | SCV002049792 | benign | not provided | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839500 | SCV002100051 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839501 | SCV002100052 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839502 | SCV002100053 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839499 | SCV002100054 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |