ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3116C>T (p.Thr1039Ile)

gnomAD frequency: 0.00001  dbSNP: rs1444239074
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554702 SCV000645059 uncertain significance Koolen-de Vries syndrome 2021-08-20 criteria provided, single submitter clinical testing

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