ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)

gnomAD frequency: 0.00001  dbSNP: rs549271654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001411896 SCV001613967 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499470 SCV002808406 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 2021-07-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278188 SCV001465184 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-10-04 no assertion criteria provided clinical testing

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