ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.375T>A (p.Arg125=)

gnomAD frequency: 0.00001  dbSNP: rs767423340
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518099 SCV000613374 uncertain significance not specified 2017-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001483204 SCV001687589 likely benign EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8 2020-10-23 criteria provided, single submitter clinical testing

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