ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.702C>A (p.Val234=)

gnomAD frequency: 0.00001  dbSNP: rs1057521846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720200 SCV000524748 likely benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Invitae RCV000952354 SCV001098851 likely benign Koolen-de Vries syndrome 2021-08-27 criteria provided, single submitter clinical testing

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