ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=)

gnomAD frequency: 0.00001  dbSNP: rs777993694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472939 SCV000555701 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001683508 SCV001905461 likely benign not provided 2020-02-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001683508 SCV004150910 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing KCNQ2: BP4, BP7

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