ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp)

gnomAD frequency: 0.00003  dbSNP: rs150282556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705013 SCV000241381 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV001246712 SCV001420089 uncertain significance Koolen-de Vries syndrome 2021-08-30 criteria provided, single submitter clinical testing

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