Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000198405 | SCV000254656 | likely benign | Long QT syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165470 | SCV003896190 | likely benign | Cardiovascular phenotype | 2023-01-12 | 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. |
Ce |
RCV003390942 | SCV004129702 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BP7 |
Prevention |
RCV003955211 | SCV004766817 | likely benign | CACNA1C-related disorder | 2019-07-12 | 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). |