ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6573+5G>A

dbSNP: rs2107663986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Research in Genodermatoses and Epidermolysis Bullosa, University of Buenos Aires RCV002277063 SCV002499352 pathogenic Recessive dystrophic epidermolysis bullosa 2022-03-14 criteria provided, single submitter clinical testing

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