ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.33A>G (p.Ala11=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001480912 SCV001685243 likely benign Koolen-de Vries syndrome 2019-09-17 criteria provided, single submitter clinical testing

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