ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1088C>T (p.Thr363Ile)

gnomAD frequency: 0.00001  dbSNP: rs775962610
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317185 SCV001507834 uncertain significance Koolen-de Vries syndrome 2021-09-17 criteria provided, single submitter clinical testing

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