Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605366 | SCV000711084 | likely benign | not specified | 2016-08-04 | criteria provided, single submitter | clinical testing | p.Ser225Ser in exon 04 of KCNQ1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (13/11492) of Latino chromosomes including one homozygote by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148566141). |
Gene |
RCV001696966 | SCV000721313 | likely benign | not provided | 2019-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863027 | SCV001003618 | benign | Long QT syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841491 | SCV001346727 | likely benign | Cardiac arrhythmia | 2019-08-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002368032 | SCV002663645 | likely benign | Cardiovascular phenotype | 2019-11-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |