ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2004G>A (p.Pro668=)

gnomAD frequency: 0.00002  dbSNP: rs771807099
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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 RCV001431758 SCV001634517 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-06-03 criteria provided, single submitter clinical testing

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