Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000173236 | SCV000166967 | benign | not specified | 2014-01-31 | 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 |
RCV000173236 | SCV000224331 | likely benign | not specified | 2014-12-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000468162 | SCV000561545 | benign | Pyridoxine-dependent epilepsy | 2025-01-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312543 | SCV000847186 | likely benign | Inborn genetic diseases | 2016-07-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Athena Diagnostics | RCV000173236 | SCV001476894 | benign | not specified | 2024-08-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000468162 | SCV004050476 | likely benign | Pyridoxine-dependent epilepsy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430685 | SCV004159283 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | ALDH7A1: BP4, BP7 |
Prevention |
RCV003925227 | SCV004746897 | likely benign | ALDH7A1-related disorder | 2019-04-26 | 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). |