ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1106T>C (p.Met369Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142342 SCV003807882 uncertain significance Kleefstra syndrome 2 2022-08-31 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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