Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040676 | SCV000064367 | uncertain significance | not specified | 2012-12-11 | criteria provided, single submitter | clinical testing | The Val24786Gly variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/3722 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemic al amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not p rovide strong support for or against an impact to the protein. Additional inform ation is needed to fully assess the clinical significance of the Val24786Gly var iant. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040676 | SCV002104051 | uncertain significance | not specified | 2022-02-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345316 | SCV002654350 | likely benign | Cardiovascular phenotype | 2019-07-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002477124 | SCV002781471 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137569 | SCV003818393 | uncertain significance | not provided | 2021-10-13 | criteria provided, single submitter | clinical testing |