ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5053-2A>G

dbSNP: rs765480571
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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 RCV002244197 SCV002512563 likely pathogenic Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 2021-10-18 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderate, PM3 supporting

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