ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=)

gnomAD frequency: 0.00004  dbSNP: rs1801385
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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 RCV000464644 SCV000555720 benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001755711 SCV000728600 benign not provided 2021-06-28 criteria provided, single submitter clinical testing

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