ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=) (rs960036500)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000868943 SCV000723476 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Invitae RCV000868943 SCV001010326 likely benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Invitae RCV001480385 SCV001684701 likely benign Koolen-de Vries syndrome 2018-08-25 criteria provided, single submitter clinical testing

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