Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189100 | SCV000242731 | benign | not specified | 2014-09-29 | 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. |
Eurofins Ntd Llc |
RCV000725288 | SCV000335699 | uncertain significance | not provided | 2015-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317153 | SCV000849840 | likely benign | Inborn genetic diseases | 2017-06-07 | 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 | RCV001428186 | SCV001630879 | likely benign | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2022-09-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725288 | SCV004147137 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | SCN2A: BP4, BP7 |
Prevention |
RCV003985291 | SCV004755410 | likely benign | SCN2A-related disorder | 2019-10-25 | 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). |