ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1280A>T (p.His427Leu)

dbSNP: rs1166960320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001316170 SCV001506775 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing

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