Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558931 | SCV000654377 | likely benign | Left ventricular noncompaction 8 | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000612968 | SCV000711469 | likely benign | not specified | 2017-03-07 | criteria provided, single submitter | clinical testing | p.Gly766Ser in exon 9 of PRDM16: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (27/9554) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs199998420). |
Gene |
RCV001697380 | SCV000717359 | likely benign | not provided | 2018-12-06 | criteria provided, single submitter | clinical testing | |
Klaassen Lab, |
RCV000853158 | SCV000995872 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2019-07-03 | criteria provided, single submitter | research |