Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703867 | SCV000526834 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000459997 | SCV000562894 | likely benign | Long QT syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339045 | SCV002642579 | likely benign | Cardiovascular phenotype | 2018-07-17 | 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 |
RCV003902563 | SCV004727070 | likely benign | CACNA1C-related disorder | 2020-06-22 | 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). |