ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1781G>C (p.Arg594Pro)

dbSNP: rs1057520691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644671 SCV000766374 uncertain significance Koolen-de Vries syndrome 2021-08-24 criteria provided, single submitter clinical testing

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