ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu)

gnomAD frequency: 0.00003  dbSNP: rs1037585739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720011 SCV000515831 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing
Invitae RCV001066773 SCV001231793 likely benign Koolen-de Vries syndrome 2022-09-30 criteria provided, single submitter clinical testing

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