ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr)

gnomAD frequency: 0.00032  dbSNP: rs142062936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705011 SCV000241372 likely benign not provided 2020-03-03 criteria provided, single submitter clinical testing
Invitae RCV000696867 SCV000825447 likely benign Koolen-de Vries syndrome 2021-09-15 criteria provided, single submitter clinical testing

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