ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733551 SCV001984132 uncertain significance Koolen-de Vries syndrome 2020-10-14 criteria provided, single submitter clinical testing

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