ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1583_1584del (p.Val528fs)

dbSNP: rs2080211640
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091368 SCV001247377 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing

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