ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.315C>T (p.Ser105=)

gnomAD frequency: 0.00003  dbSNP: rs200224824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000864869 SCV001852244 benign not provided 2015-04-02 criteria provided, single submitter clinical testing
Invitae RCV002062258 SCV002381265 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000864869 SCV002544651 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing KCNQ2: BP4, BP7

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