ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1489G>A (p.Ala497Thr)

gnomAD frequency: 0.00004  dbSNP: rs368279666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818515 SCV000959133 likely benign Benign neonatal seizures 2023-12-26 criteria provided, single submitter clinical testing
GeneDx RCV001655606 SCV001871203 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing

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