Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040923 | SCV000064614 | uncertain significance | not specified | 2012-04-19 | criteria provided, single submitter | clinical testing | The Arg31678His variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stron g support for or against an impact to the protein. This variant has been identif ied in 0.01% (1/6620) of European American chromosomes from a broad population b y the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP ) ; however, this frequency is too low to rule out a disease causing role. In summ ary, additional information is needed to fully assess the clinical significance of the Arg31678His variant. |
Labcorp Genetics |
RCV000462618 | SCV000555335 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703916 | SCV000713901 | benign | not provided | 2019-05-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24503780) |
Genetics and Genomics Program, |
RCV001293170 | SCV001434167 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Ambry Genetics | RCV002390174 | SCV002670866 | likely benign | Cardiovascular phenotype | 2019-12-05 | 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. |
Ce |
RCV001703916 | SCV002822722 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | TTN: BS2 |
CHEO Genetics Diagnostic Laboratory, |
RCV003149664 | SCV003837950 | benign | Cardiomyopathy | 2021-11-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040923 | SCV004029884 | likely benign | not specified | 2023-07-09 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000040923 | SCV001922824 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001703916 | SCV001973706 | likely benign | not provided | no assertion criteria provided | clinical testing |