ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu)

gnomAD frequency: 0.00001  dbSNP: rs750113696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002486045 SCV002776984 uncertain significance Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa 2022-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278923 SCV001465969 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-06 no assertion criteria provided clinical testing

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