ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.471G>A (p.Thr157=)

gnomAD frequency: 0.00004  dbSNP: rs143528720
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002156333 SCV002471693 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-07-20 criteria provided, single submitter clinical testing

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