ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.8074C>T (p.Arg2692Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003234827 SCV003932790 likely benign Kabuki syndrome 1 2023-01-01 criteria provided, single submitter clinical testing

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