ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9326C>A (p.Pro3109His)

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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 RCV002638121 SCV003521581 benign Kabuki syndrome 2024-06-03 criteria provided, single submitter clinical testing

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