ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)

gnomAD frequency: 0.00003  dbSNP: rs761393259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001871576 SCV002222783 likely benign not provided 2023-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486062 SCV002782434 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 2022-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279710 SCV001466829 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-05 no assertion criteria provided clinical testing

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