Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000229483 | SCV000287999 | benign | Hypertrophic cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Laboratory for Molecular Medicine, |
RCV000607643 | SCV000711568 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ser1065Ser in exon 21 of MYOM1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1.6% (8/492) of Af rican chromosomes from a broad population by the 1000 Genomes Project (http://ww w.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs185366609). |
| Ambry Genetics | RCV002444898 | SCV002612177 | likely benign | Inborn genetic diseases | 2022-03-04 | 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. |