ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.2436C>T (p.Cys812=)

gnomAD frequency: 0.00002  dbSNP: rs144511145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539636 SCV001757432 likely benign not provided 2020-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003528311 SCV004299500 benign Kabuki syndrome 2 2025-01-13 criteria provided, single submitter clinical testing

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