ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.648C>T (p.His216=)

gnomAD frequency: 0.00002  dbSNP: rs144001770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703846 SCV000525184 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001393462 SCV001595124 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-12-16 criteria provided, single submitter clinical testing

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