Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723919 | SCV000224956 | uncertain significance | not provided | 2014-06-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723919 | SCV000241612 | likely benign | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 14534157, 32613771) |
Invitae | RCV001081148 | SCV001131931 | likely benign | Benign neonatal seizures | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000723919 | SCV001144354 | likely benign | not provided | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390116 | SCV002699157 | likely benign | Inborn genetic diseases | 2019-08-02 | 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. |
Gene |
RCV000678047 | SCV000041084 | not provided | Seizures, benign familial neonatal, 2 | no assertion provided | literature only | All 3 sibs with the variant were affected. Chinese ethnicity; variant is present in 0.06% of East Asians (gnomAD) |