Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188825 | SCV000242454 | likely benign | not provided | 2019-03-27 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18930999) |
Knight Diagnostic Laboratories, |
RCV001270122 | SCV001448984 | likely benign | Global developmental delay; Abnormality of the nervous system; Atypical behavior; Aggressive behavior; Gait disturbance; Intellectual disability; Impulsivity | 2018-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001417377 | SCV001619577 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2021-11-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433853 | SCV002746558 | likely benign | Inborn genetic diseases | 2017-06-22 | 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 |
RCV003947581 | SCV004757057 | likely benign | SCN1A-related condition | 2023-09-06 | 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). |