ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.739del (p.Asp247fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV004771401 SCV005380291 likely pathogenic Treacher Collins syndrome 1 criteria provided, single submitter not provided

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