ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.16434C>T (p.Ala5478=)

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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 RCV003753609 SCV004530763 likely benign Kabuki syndrome 2023-02-18 criteria provided, single submitter clinical testing

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