ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.-4del

dbSNP: rs771282908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398655 SCV000456061 uncertain significance Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313505 SCV000456062 uncertain significance Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311422 SCV000846045 likely benign Inborn genetic diseases 2018-04-05 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.
GeneDx RCV001551998 SCV001772609 likely benign not provided 2020-02-21 criteria provided, single submitter clinical testing

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