ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2204-11C>A

gnomAD frequency: 0.00004  dbSNP: rs373489007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698447 SCV000732759 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Invitae RCV002060658 SCV002398528 likely benign Koolen-de Vries syndrome 2021-09-10 criteria provided, single submitter clinical testing

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