ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001444825 SCV001647838 likely benign Koolen-de Vries syndrome 2020-08-25 criteria provided, single submitter clinical testing
GeneDx RCV001712902 SCV001939540 likely benign not provided 2020-02-06 criteria provided, single submitter clinical testing

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