ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.949A>G (p.Ile317Val) (rs139843442)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720041 SCV000518092 benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV000691900 SCV000819699 benign Koolen-de Vries syndrome 2020-06-17 criteria provided, single submitter clinical testing

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