ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.36A>T (p.Ser12=)

gnomAD frequency: 0.00006  dbSNP: rs762058667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000457301 SCV000558898 likely benign Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2024-10-28 criteria provided, single submitter clinical testing
GeneDx RCV001683514 SCV001902732 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350021 SCV002621568 likely benign Inborn genetic diseases 2017-10-27 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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