Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040581 | SCV000064272 | uncertain significance | not specified | 2012-12-06 | criteria provided, single submitter | clinical testing | The Met21493Val variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/3720 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201482015). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein . In summary, additional information is needed to fully assess its clinical sign ificance. |
Invitae | RCV001087461 | SCV000765015 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727728 | SCV000855085 | uncertain significance | not provided | 2017-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727728 | SCV000970828 | likely benign | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002326759 | SCV002639679 | likely benign | Cardiovascular phenotype | 2020-02-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Revvity Omics, |
RCV000727728 | SCV003818486 | uncertain significance | not provided | 2019-07-08 | criteria provided, single submitter | clinical testing |