ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1011C>G (p.Ser337=)

gnomAD frequency: 0.16502  dbSNP: rs2240758
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514335 SCV001722157 benign Koolen-de Vries syndrome 2021-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001598654 SCV001827775 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528289 SCV001739784 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528289 SCV001959272 benign not specified no assertion criteria provided clinical testing

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