ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter)

dbSNP: rs2045866462
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352746 SCV001547279 pathogenic Epidermolysis bullosa dystrophica 2009-03-04 criteria provided, single submitter research

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