ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2313G>A (p.Leu771=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002216595 SCV002368151 likely benign Koolen-de Vries syndrome 2021-06-06 criteria provided, single submitter clinical testing

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