ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3465G>C (p.Leu1155=)

dbSNP: rs961946514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589438 SCV001814951 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070413 SCV002485335 likely benign Kabuki syndrome 2 2024-12-23 criteria provided, single submitter clinical testing

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