ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.662C>T (p.Thr221Ile)

gnomAD frequency: 0.11857  dbSNP: rs17662853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514547 SCV001722414 benign Koolen-de Vries syndrome 2021-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001683301 SCV001900542 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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