ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=)

gnomAD frequency: 0.00006  dbSNP: rs374526673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867598 SCV001008844 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001712814 SCV001940559 benign not provided 2021-03-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001712814 SCV001962400 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing

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