Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041094 | SCV000064785 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Pro3948Pro in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/6594 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs72648921). Pro3948Pro in exon 45B of TTN (rs72648921; allele frequency = 1/6594) ** |
Invitae | RCV000869750 | SCV001011204 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336154 | SCV002619187 | benign | Cardiovascular phenotype | 2020-08-12 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |