ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1075del (p.Leu359fs)

dbSNP: rs2150687333
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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 RCV001777126 SCV002014578 pathogenic Treacher Collins syndrome 2021-11-11 criteria provided, single submitter clinical testing

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