ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.58_70del (p.Arg20fs)

dbSNP: rs2045987838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biomedical Innovation Departament, CIEMAT RCV001352697 SCV001547275 pathogenic Epidermolysis bullosa dystrophica 2008-11-04 criteria provided, single submitter research
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002245973 SCV002512596 pathogenic Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 2022-02-09 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 moderate, PM2 moderate, PM3 strong, PP1 supporting, PP1
Fulgent Genetics, Fulgent Genetics RCV002476621 SCV002777031 pathogenic 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 2021-12-15 criteria provided, single submitter clinical testing

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