ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10480_10483del (p.Asn3494fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004784224 SCV005395962 pathogenic Kleefstra syndrome 2024-11-13 criteria provided, single submitter clinical testing

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