Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608354 | SCV000711571 | likely benign | not specified | 2016-09-01 | criteria provided, single submitter | clinical testing | c.2385-13G>A in intron 16 of MYOM1: This variant is not expected to have clinica l significance because it has been identified in 0.4% (36/8860) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs116126674). |
Invitae | RCV002062126 | SCV002436376 | benign | Hypertrophic cardiomyopathy | 2024-01-13 | criteria provided, single submitter | clinical testing |