ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.2892C>T (p.Ser964=)

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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 RCV005079176 SCV005706990 likely benign Kabuki syndrome 2 2024-05-01 criteria provided, single submitter clinical testing

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