ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839102 SCV002099007 uncertain significance Koolen-de Vries syndrome 2021-03-24 criteria provided, single submitter clinical testing
Invitae RCV001839102 SCV002308243 uncertain significance Koolen-de Vries syndrome 2021-08-13 criteria provided, single submitter clinical testing

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