Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040955 | SCV000064646 | uncertain significance | not specified | 2012-11-21 | criteria provided, single submitter | clinical testing | The Val3250Gly variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant is listed in dbSNP (rs55634230) without frequency information. Computational analyses (biochemical amino acid pr operties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Val3250 Gly variant may impact the protein, though this information is not predictive en ough to determine pathogenicity. Additional information is needed to fully asses s the clinical significance of the Val3250Gly variant. |
Invitae | RCV000230763 | SCV000286946 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697033 | SCV000721896 | likely benign | not provided | 2020-06-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28704380) |
Ambry Genetics | RCV002381322 | SCV002695717 | likely benign | Cardiovascular phenotype | 2020-09-21 | 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. |