Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040023 | SCV000063714 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Ala7134Ala in exon 84 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.3% (8/2996) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Ala7134Ala in exon 84 of TTN (allel e frequency = 0.3%, 8/2996) ** |
Eurofins Ntd Llc |
RCV000040023 | SCV000232854 | likely benign | not specified | 2014-12-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000040023 | SCV000236746 | benign | not specified | 2014-06-26 | 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 | RCV000538913 | SCV000642868 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-28 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769052 | SCV000900425 | benign | Cardiomyopathy | 2016-09-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839548 | SCV002102046 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839549 | SCV002102047 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839550 | SCV002102048 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001839547 | SCV002102049 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000040023 | SCV001917590 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727540 | SCV001969651 | likely benign | not provided | no assertion criteria provided | clinical testing |