ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.6752G>A (p.Gly2251Glu) (rs121912834)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018984 SCV000039271 pathogenic Transient bullous dermolysis of the newborn 2007-05-01 no assertion criteria provided literature only
OMIM RCV000018985 SCV000039272 pathogenic Nail disorder, nonsyndromic congenital, 8 2007-05-01 no assertion criteria provided literature only
OMIM RCV000018986 SCV000039273 pathogenic Epidermolysis bullosa pruriginosa, autosomal dominant 2007-05-01 no assertion criteria provided literature only

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