ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)

gnomAD frequency: 0.00003  dbSNP: rs763764765
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493486 SCV002777497 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 2021-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003718394 SCV004511598 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005236756 SCV005888127 likely benign not specified 2025-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278911 SCV001465957 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-23 no assertion criteria provided clinical testing

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