ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)

gnomAD frequency: 0.00001  dbSNP: rs775582928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214588 SCV001386274 uncertain significance Koolen-de Vries syndrome 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001214588 SCV002776058 uncertain significance Koolen-de Vries syndrome 2021-12-03 criteria provided, single submitter clinical testing

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