ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6900+2T>G

dbSNP: rs2044013947
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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 RCV001352823 SCV001547366 pathogenic Epidermolysis bullosa dystrophica 2018-06-20 criteria provided, single submitter research

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