ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys)

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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 RCV001352698 SCV001547324 pathogenic Dystrophic epidermolysis bullosa 2009-07-17 criteria provided, single submitter research
GeneDx RCV001562826 SCV001785656 likely pathogenic not provided 2020-12-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20920254, 17425959, 20184583)

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