ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5018G>A (p.Gly1673Glu)

dbSNP: rs2107706848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244182 SCV002512541 likely pathogenic Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 2022-02-16 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM2 moderate, PM3 supporting, PP1, PP3 supporting

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