Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035740 | SCV000059391 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Lys551Lys in exon 16 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). |
Invitae | RCV003748183 | SCV004553581 | likely benign | Hypertrophic cardiomyopathy | 2023-10-11 | criteria provided, single submitter | clinical testing |