ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.930C>T (p.Ala310=)

dbSNP: rs763673329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981927 SCV001129936 likely benign not provided 2018-11-30 criteria provided, single submitter clinical testing
Invitae RCV001480547 SCV001684867 likely benign Koolen-de Vries syndrome 2018-11-30 criteria provided, single submitter clinical testing

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