ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg)

gnomAD frequency: 0.00048  dbSNP: rs138723332
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871783 SCV001013495 benign Kabuki syndrome 2 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001683678 SCV001901034 benign not provided 2020-08-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001683678 SCV001929258 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724181 SCV001957599 benign not specified no assertion criteria provided clinical testing

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