ClinVar Miner

Submissions for variant NM_000815.5(GABRD):c.747G>C (p.Val249=)

gnomAD frequency: 0.00006  dbSNP: rs199993714
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001516517 SCV001724811 benign Idiopathic generalized epilepsy 2022-03-03 criteria provided, single submitter clinical testing

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