ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.918T>C (p.Ser306=)

gnomAD frequency: 0.00002  dbSNP: rs753152841
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124855 SCV002403673 benign Kabuki syndrome 2 2024-09-10 criteria provided, single submitter clinical testing

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