Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186662 | SCV000171698 | benign | not specified | 2013-07-24 | 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 |
RCV000723793 | SCV000203590 | uncertain significance | not provided | 2015-01-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001087312 | SCV000649808 | likely benign | GLUT1 deficiency syndrome 1, autosomal recessive | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312940 | SCV000848845 | benign | Inborn genetic diseases | 2019-03-21 | 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 |
RCV000723793 | SCV002821391 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | SLC2A1: BP4 |
Genome Diagnostics Laboratory, |
RCV000723793 | SCV001930092 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000723793 | SCV001972383 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004551226 | SCV004731225 | likely benign | SLC2A1-related disorder | 2019-05-03 | 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). |