Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037539 | SCV000061197 | likely benign | not specified | 2011-12-01 | criteria provided, single submitter | clinical testing | Arg244Arg in exon 8 of MYH7: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Arg244Arg in exon 8 of MYH7 (allele frequency = n/a) |
Invitae | RCV001404561 | SCV001606463 | likely benign | Hypertrophic cardiomyopathy 14 | 2021-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381304 | SCV002669774 | likely benign | Cardiovascular phenotype | 2019-12-04 | 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. |