ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)

gnomAD frequency: 0.00001  dbSNP: rs751768659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069404 SCV002385451 likely benign not provided 2024-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504391 SCV002806309 likely benign 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 2021-09-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277580 SCV001464540 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-04-24 no assertion criteria provided clinical testing

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