Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000756286 | SCV000884052 | likely benign | not provided | 2018-05-15 | criteria provided, single submitter | clinical testing | The c.1851C>T; p.Leu617Leu variant (rs962199389) does not alter the amino acid sequence of the KCNQ1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with cardiac disease in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.003% (identified on 1 out of 30,900 chromosomes). Based on the available information, the c.1851C>T variant is likely to be benign. |
Labcorp Genetics |
RCV001466223 | SCV001670223 | likely benign | Long QT syndrome | 2021-08-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002406677 | SCV002711520 | likely benign | Cardiovascular phenotype | 2020-11-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Color Diagnostics, |
RCV003591777 | SCV004358444 | likely benign | Cardiac arrhythmia | 2021-09-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001466223 | SCV004836489 | likely benign | Long QT syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |