Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001702420 | SCV000512450 | likely benign | not provided | 2019-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000457023 | SCV000562911 | likely benign | Long QT syndrome | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314047 | SCV000848274 | likely benign | Cardiovascular phenotype | 2017-05-15 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000425928 | SCV001426769 | benign | not specified | 2020-07-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504068 | SCV002812438 | likely benign | Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 | 2021-09-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897707 | SCV004714699 | likely benign | CACNA1C-related disorder | 2023-12-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV001702420 | SCV001929198 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702420 | SCV001966555 | likely benign | not provided | no assertion criteria provided | clinical testing |