Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000039874 | SCV000055072 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000039874 | SCV000063565 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Glu3951Gly in Exon 50 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (37/3184) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs72648931). |
Gene |
RCV000039874 | SCV000238220 | benign | not specified | 2016-08-29 | 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. |
Labcorp Genetics |
RCV000225867 | SCV000286455 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000039874 | SCV000616002 | benign | not specified | 2017-02-07 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769078 | SCV000900451 | benign | Cardiomyopathy | 2018-05-24 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000769078 | SCV000995652 | benign | Cardiomyopathy | 2019-06-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000039874 | SCV001432082 | likely benign | not specified | 2020-08-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839492 | SCV002100074 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839493 | SCV002100075 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839494 | SCV002100076 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839491 | SCV002100077 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000039874 | SCV001920097 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000039874 | SCV001969736 | benign | not specified | no assertion criteria provided | clinical testing |