ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4031T>C (p.Ile1344Thr)

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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 RCV003753270 SCV004518838 benign Kabuki syndrome 2023-06-20 criteria provided, single submitter clinical testing
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" RCV003991053 SCV004037596 uncertain significance Kabuki syndrome 1 2023-07-03 no assertion criteria provided clinical testing

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