Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000609070 | SCV000712286 | likely benign | not specified | 2016-06-21 | criteria provided, single submitter | clinical testing | p.Ser105Ser in Exon 3 of KCNE1: 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 2/66144 chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs563859144). |
Ambry Genetics | RCV000621004 | SCV000737666 | benign | Cardiovascular phenotype | 2015-06-04 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV001477209 | SCV001681439 | likely benign | Long QT syndrome | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000866153 | SCV001884879 | benign | not provided | 2017-08-07 | criteria provided, single submitter | clinical testing |