Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152248 | SCV000201062 | likely benign | not specified | 2014-02-06 | criteria provided, single submitter | clinical testing | Ala19579Ala in exon 264 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. Ala19579Ala in exon 264 of TTN (allele fr equency = n/a) |
Invitae | RCV001457549 | SCV001661352 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372000 | SCV002624913 | likely benign | Cardiovascular phenotype | 2022-05-23 | 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. |