ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.3340T>C (p.Cys1114Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004723666 SCV005328540 uncertain significance Kleefstra syndrome 2 2024-09-30 criteria provided, single submitter clinical testing ACMG: PM2_Supporting, PP3_Moderate, BP1

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