ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)

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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 RCV003150844 SCV003838993 pathogenic CHARGE syndrome 2023-03-10 criteria provided, single submitter clinical testing

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