ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter)

dbSNP: rs2077030838
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283793 SCV001469178 likely pathogenic Koolen-de Vries syndrome 2020-05-06 no assertion criteria provided clinical testing

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