ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352756 SCV001547290 pathogenic Dystrophic epidermolysis bullosa 2017-11-11 criteria provided, single submitter research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529155 SCV001742155 pathogenic not provided no assertion criteria provided clinical testing

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