Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040357 | SCV000064048 | likely benign | not specified | 2012-02-09 | criteria provided, single submitter | clinical testing | Ser15499Ser in exon 230 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue. Ser15499Ser in exo n 230 of TTN (allele frequency = n/a) |
Ambry Genetics | RCV002426580 | SCV002742843 | likely benign | Cardiovascular phenotype | 2019-06-07 | 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. |
Invitae | RCV002513564 | SCV003019775 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-07-18 | criteria provided, single submitter | clinical testing |