ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5443G>A (p.Gly1815Arg) (rs121912841)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000256181 SCV000043764 pathogenic Nail disorder, nonsyndromic congenital, 8 2002-02-01 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144373 SCV000189440 not provided Dominant dystrophic epidermolysis bullosa with absence of skin no assertion provided not provided
OMIM RCV000225690 SCV000282662 pathogenic Recessive dystrophic epidermolysis bullosa 2002-02-01 no assertion criteria provided literature only

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