ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.551C>A (p.Thr184Asn)

gnomAD frequency: 0.00001  dbSNP: rs1366986871
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644672 SCV000766375 uncertain significance Koolen-de Vries syndrome 2021-09-01 criteria provided, single submitter clinical testing

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