ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.981A>G (p.Leu327=)

gnomAD frequency: 0.00002  dbSNP: rs767828980
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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 RCV002634023 SCV003519972 benign Kabuki syndrome 2 2024-10-28 criteria provided, single submitter clinical testing

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