Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704339 | SCV000528396 | likely benign | not provided | 2020-05-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318465 | SCV000851436 | likely benign | Inborn genetic diseases | 2016-12-30 | 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 | RCV000865984 | SCV001007018 | likely benign | Landau-Kleffner syndrome | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001704339 | SCV004701906 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | GRIN2A: BP4, BP7 |
Prevention |
RCV003922795 | SCV004741096 | likely benign | GRIN2A-related condition | 2019-10-28 | 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). |