ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)

gnomAD frequency: 0.00002  dbSNP: rs773201784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001462718 SCV001666643 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480897 SCV002795966 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 2021-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278178 SCV001465174 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-14 no assertion criteria provided clinical testing

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