ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup)

dbSNP: rs797044622
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173515 SCV000224635 benign not specified 2015-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000870869 SCV001012428 benign Kabuki syndrome 2 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001556266 SCV001777814 likely benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173515 SCV002066110 benign not specified 2018-12-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000173515 SCV001743565 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000173515 SCV001975593 benign not specified no assertion criteria provided clinical testing

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