ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7471G>C (p.Ala2491Pro)

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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 RCV005144315 SCV005767700 benign Kabuki syndrome 2024-11-22 criteria provided, single submitter clinical testing

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