Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035532 | SCV000059182 | likely benign | not specified | 2011-09-30 | criteria provided, single submitter | clinical testing | Pro952Pro in exon 27 of MYBPC3: This variant does not change an amino acid and d oes not affect the splice consensus sequence. This makes a disease causing role very unlikely. |
Ambry Genetics | RCV000247708 | SCV000317576 | likely benign | Cardiovascular phenotype | 2012-08-09 | 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. |