Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035420 | SCV000059068 | likely benign | not specified | 2017-03-03 | criteria provided, single submitter | clinical testing | c.1624+14_1624+15insA in intron 17 of MYBPC3: This variant is not expected to ha ve clinical significance because it is not located within the splice consensus s equence. It has been identified in 8/57238 African chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369096037). |
Gene |
RCV001719724 | SCV000568914 | likely benign | not provided | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054562 | SCV002362004 | benign | Hypertrophic cardiomyopathy | 2023-11-24 | criteria provided, single submitter | clinical testing |