Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724441 | SCV000229896 | uncertain significance | not provided | 2016-08-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724441 | SCV000525493 | likely benign | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317042 | SCV000850248 | likely benign | Inborn genetic diseases | 2016-10-10 | 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. |
Invitae | RCV001089248 | SCV001022254 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724441 | SCV002498432 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CACNA1A: BP4, BP7 |
Prevention |
RCV003985288 | SCV004743389 | likely benign | CACNA1A-related disorder | 2019-04-18 | 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). |