Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040881 | SCV000064572 | likely benign | not specified | 2015-01-19 | criteria provided, single submitter | clinical testing | p.Trp30466Cys in exon 303 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (25/8738) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs397517778). |
Gene |
RCV001703914 | SCV000237866 | likely benign | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362) |
Invitae | RCV000643803 | SCV000765490 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000040881 | SCV000858115 | likely benign | not specified | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371850 | SCV002672313 | likely benign | Cardiovascular phenotype | 2019-07-27 | 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. |