Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231861 | SCV000285615 | benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705245 | SCV000512615 | likely benign | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000437709 | SCV000612738 | benign | not specified | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372263 | SCV002685118 | likely benign | Inborn genetic diseases | 2019-01-08 | 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 |
RCV003955316 | SCV004768949 | likely benign | CHRNA4-related condition | 2019-03-26 | 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). |