ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2284C>T (p.Arg762Ter)

dbSNP: rs2146363405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002254897 SCV002526137 likely pathogenic See cases 2022-05-02 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989140 SCV004805757 pathogenic Koolen-de Vries syndrome 2024-03-29 criteria provided, single submitter clinical testing

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