Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213478 | SCV000270592 | likely benign | not specified | 2015-09-09 | criteria provided, single submitter | clinical testing | p.Arg1194Arg in exon 19 of MYPN: 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. It has been identified in 1/10296 African c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs139820597). |
Invitae | RCV001482690 | SCV001687064 | likely benign | Dilated cardiomyopathy 1KK | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002460060 | SCV002618096 | likely benign | Cardiovascular phenotype | 2019-05-20 | 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. |