ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5857C>G (p.Leu1953Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289066 SCV002581485 uncertain significance Kabuki syndrome 1 2022-03-22 criteria provided, single submitter clinical testing

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