ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.1674A>G (p.Gln558=)

gnomAD frequency: 0.00004  dbSNP: rs773682292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003070131 SCV003474356 likely benign Kabuki syndrome 2 2024-10-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003070131 SCV005682940 uncertain significance Kabuki syndrome 2 2024-02-19 criteria provided, single submitter clinical testing

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