ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.14006_14007del (p.Ser4669fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002814354 SCV003035398 pathogenic Kleefstra syndrome 2 2023-01-19 criteria provided, single submitter clinical testing

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