ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr) (rs138565467)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000528628 SCV000241368 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Invitae RCV000528628 SCV000645028 likely benign not provided 2018-12-03 criteria provided, single submitter clinical testing
Invitae RCV001430422 SCV001633156 likely benign Koolen-de Vries syndrome 2020-10-01 criteria provided, single submitter clinical testing

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