ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1110T>C (p.Asp370=)

gnomAD frequency: 0.00001  dbSNP: rs201824364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000302871 SCV000344954 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059287 SCV002397785 likely benign Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2022-07-12 criteria provided, single submitter clinical testing

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