Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000727052 | SCV000237318 | likely benign | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000222884 | SCV000272691 | uncertain significance | not specified | 2015-11-13 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg15905Gly v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.2% (23/9766) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72646822) . Computational prediction tools and conservation analysis suggest that the p.Ar g15905Gly variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, while the clinical significan ce of the p.Arg15905Gly variant is uncertain, its frequency suggests that it is more likely to be benign. |
Invitae | RCV001086041 | SCV000643380 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727052 | SCV000705221 | uncertain significance | not provided | 2017-08-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433829 | SCV002752544 | likely benign | Cardiovascular phenotype | 2018-07-10 | 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, |
RCV000727052 | SCV003824075 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing |