ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2984dup (p.Gly996fs)

dbSNP: rs2045352552
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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 RCV001352932 SCV001547555 pathogenic Epidermolysis bullosa dystrophica 2018-02-26 criteria provided, single submitter research

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