Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039974 | SCV000063665 | benign | not specified | 2015-04-28 | criteria provided, single submitter | clinical testing | p.Thr6320Thr in exon 75 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (38/9800) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs187182557). |
Gene |
RCV001719764 | SCV000238322 | likely benign | not provided | 2021-06-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000476003 | SCV000555334 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000039974 | SCV000616025 | benign | not specified | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000039974 | SCV000700706 | likely benign | not specified | 2017-01-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001719764 | SCV001473649 | benign | not provided | 2019-11-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839540 | SCV002099851 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839541 | SCV002099852 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839542 | SCV002099853 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839539 | SCV002099854 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000039974 | SCV002555947 | likely benign | not specified | 2022-06-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486575 | SCV004239855 | benign | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing |