ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.226-4C>A

gnomAD frequency: 0.00012  dbSNP: rs369346366
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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 RCV003087893 SCV003474551 benign Kabuki syndrome 2 2022-07-01 criteria provided, single submitter clinical testing

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