Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221889 | SCV000270308 | likely benign | not specified | 2015-02-20 | criteria provided, single submitter | clinical testing | p.Thr391Thr in exon 9 of KCNQ1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3/16510 of South A sian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org). |
Color Diagnostics, |
RCV001842969 | SCV001354208 | likely benign | Cardiac arrhythmia | 2018-10-17 | criteria provided, single submitter | clinical testing |