ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.14376G>C (p.Glu4792Asp)

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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 RCV002289133 SCV002578903 uncertain significance Kleefstra syndrome 2 2022-04-12 criteria provided, single submitter clinical testing

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