Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156768 | SCV000206489 | likely benign | not specified | 2014-08-21 | criteria provided, single submitter | clinical testing | Thr13941Thr in exon 212 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. |
Eurofins Ntd Llc |
RCV000725597 | SCV000338014 | uncertain significance | not provided | 2015-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002053894 | SCV002430711 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426760 | SCV002726770 | likely benign | Cardiovascular phenotype | 2019-08-29 | 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. |