ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1110A>G (p.Thr370=)

gnomAD frequency: 0.00006  dbSNP: rs200523834
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704384 SCV000529110 likely benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000526261 SCV000646963 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing

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