ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5532+1G>T

dbSNP: rs767182886
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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 RCV001352701 SCV001547327 pathogenic Epidermolysis bullosa dystrophica 2012-11-26 criteria provided, single submitter research
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002276700 SCV002499342 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing

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