ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.2859-5dup

dbSNP: rs10605935
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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 RCV001515623 SCV001723731 benign Kabuki syndrome 2 2024-12-09 criteria provided, single submitter clinical testing
GeneDx RCV001587449 SCV001824582 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing

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