ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.494del (p.Ser164_Ser165insTer)

dbSNP: rs2046298627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349953 SCV001544321 uncertain significance Koolen-de Vries syndrome 2021-07-14 criteria provided, single submitter clinical testing

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