Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000614043 | SCV000712424 | likely benign | not specified | 2016-08-10 | criteria provided, single submitter | clinical testing | p.Met285Thr in exon 8C of TRDN: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (48/7506) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs572614305). |
ARUP Laboratories, |
RCV001002182 | SCV001160052 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 5 | 2019-03-13 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004705679 | SCV005225226 | likely benign | not provided | criteria provided, single submitter | not provided |