ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.873G>T (p.Arg291Ser)

dbSNP: rs1057519535
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000417017 SCV000494519 likely pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing

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