Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000437029 | SCV000510943 | likely benign | not provided | 2016-09-21 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000484910 | SCV000568082 | benign | not specified | 2016-06-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001080102 | SCV000656798 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314124 | SCV000849133 | benign | Inborn genetic diseases | 2017-02-24 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV000437029 | SCV004137977 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | CACNA1A: BS1 |
Prevention |
RCV003985328 | SCV004732001 | likely benign | CACNA1A-related disorder | 2020-03-23 | no assertion criteria provided | 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). |