Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000377275 | SCV000339949 | uncertain significance | not provided | 2016-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085791 | SCV000627520 | likely benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000377275 | SCV001882096 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450819 | SCV002737146 | likely benign | Cardiovascular phenotype | 2018-01-26 | 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. |
Prevention |
RCV003949879 | SCV004757106 | likely benign | CACNA1C-related disorder | 2024-02-23 | 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). |