ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12646_12653del (p.Asp4216fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003992065 SCV004811953 likely pathogenic Kleefstra syndrome 2 2022-04-01 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2_SUP

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