ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2391C>T (p.His797=)

gnomAD frequency: 0.00001  dbSNP: rs763446963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174899 SCV000226292 uncertain significance not provided 2015-03-19 criteria provided, single submitter clinical testing
Invitae RCV001441189 SCV001644109 likely benign Benign neonatal seizures 2022-06-22 criteria provided, single submitter clinical testing

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