ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)

dbSNP: rs2077005160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248303 SCV001421776 benign Koolen-de Vries syndrome 2022-02-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481034 SCV004224387 uncertain significance not provided 2022-09-28 criteria provided, single submitter clinical testing BP4, PM2

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