Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002229664 | SCV000288825 | likely benign | Long QT syndrome 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705268 | SCV000714240 | likely benign | not provided | 2020-11-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26350513) |
Ambry Genetics | RCV002411049 | SCV002710950 | likely benign | Cardiovascular phenotype | 2019-01-28 | 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. |
ARUP Laboratories, |
RCV001705268 | SCV004564896 | likely benign | not provided | 2023-06-28 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001705268 | SCV005209707 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000604992 | SCV001919036 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000604992 | SCV001927309 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001705268 | SCV001954052 | likely benign | not provided | no assertion criteria provided | clinical testing |