ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6263C>T (p.Thr2088Ile)

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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 RCV003753694 SCV004538147 benign Kabuki syndrome 2024-08-22 criteria provided, single submitter clinical testing

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