Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220915 | SCV000270568 | likely benign | not specified | 2015-11-19 | criteria provided, single submitter | clinical testing | c.4648+7A>G in intron 34 of MYOM1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 7/10040 Latino chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org; dbSNP rs555598943). |
Invitae | RCV000866632 | SCV001007756 | likely benign | Hypertrophic cardiomyopathy | 2024-01-01 | criteria provided, single submitter | clinical testing |