ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.1194+17G>A

gnomAD frequency: 0.00061  dbSNP: rs371918621
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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 RCV001509761 SCV001716632 benign Kabuki syndrome 2 2024-12-14 criteria provided, single submitter clinical testing

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