Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725442 | SCV000336962 | uncertain significance | not provided | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725442 | SCV000523096 | likely benign | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085198 | SCV000775234 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429219 | SCV002743905 | likely benign | Inborn genetic diseases | 2018-02-21 | 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 |
RCV003985314 | SCV004784312 | likely benign | CACNA1A-related disorder | 2019-03-18 | 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). |