Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154920 | SCV000204602 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Asp22209Asp in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/3174 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; rs368530092). Asp22209Asp in exon 275 of TTN (r s368530092; allele frequency 1/3174) ** |
Eurofins Ntd Llc |
RCV000724584 | SCV000228573 | uncertain significance | not provided | 2015-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643792 | SCV000765479 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769943 | SCV000901369 | likely benign | Cardiomyopathy | 2020-08-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336329 | SCV002635856 | likely benign | Cardiovascular phenotype | 2021-09-10 | 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. |