Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220880 | SCV000271046 | likely benign | not specified | 2015-10-22 | criteria provided, single submitter | clinical testing | p.Asp17123Asp in exon 249 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/11492 Latino c hromosomes and 1/9802 African American by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org). |
Invitae | RCV001499629 | SCV001704395 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556483 | SCV001778073 | likely benign | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321836 | SCV002608044 | likely benign | Cardiovascular phenotype | 2021-03-27 | 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. |