Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040896 | SCV000064587 | uncertain significance | not specified | 2015-09-08 | criteria provided, single submitter | clinical testing | The p.Gly30905Ser variant in TTN has been identified by our laboratory in 1 mixe d race individual with HCM. This variant has been identified in 4/66100 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs397517783). Computational prediction tools and conservation anal ysis do not provide strong support for or against an impact to the protein. In s ummary, the clinical significance of the p.Gly30905Ser variant is uncertain. |
Eurofins Ntd Llc |
RCV000725603 | SCV000338093 | uncertain significance | not provided | 2015-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381321 | SCV002674401 | likely benign | Cardiovascular phenotype | 2020-05-27 | 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. |
Athena Diagnostics | RCV000725603 | SCV002770633 | uncertain significance | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477125 | SCV002776414 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000725603 | SCV003826730 | uncertain significance | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000040896 | SCV003928666 | uncertain significance | not specified | 2023-04-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725603 | SCV004150196 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | TTN: PM2 |
Breakthrough Genomics, |
RCV000725603 | SCV005188101 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV000725603 | SCV005412977 | uncertain significance | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing |