ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs960036500
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Total submissions: 2
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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 RCV001480385 SCV001684701 likely benign Koolen-de Vries syndrome 2021-06-19 criteria provided, single submitter clinical testing

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