ClinVar Miner

Submissions for variant NM_139137.4(KCNC2):c.1405G>T (p.Val469Leu)

dbSNP: rs2136943414
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001526457 SCV001736873 uncertain significance KCNC2-related disorder 2021-04-07 criteria provided, single submitter clinical testing

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