ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.647A>T (p.Asp216Val)

dbSNP: rs2046288156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204283 SCV001375482 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing

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