ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met)

gnomAD frequency: 0.00005  dbSNP: rs570139975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087049 SCV000634057 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-11 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593892 SCV000702917 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000593892 SCV000979286 benign not provided 2021-06-04 criteria provided, single submitter clinical testing

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