ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.48G>A (p.Pro16=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003787758 SCV004604266 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-10-06 criteria provided, single submitter clinical testing

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