ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8524_8527+10del

dbSNP: rs566181351
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902661 SCV001047092 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958168 SCV004769167 likely benign COL7A1-related disorder 2024-02-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000018995 SCV000039282 pathogenic Epidermolysis bullosa, pretibial, autosomal recessive 1999-11-01 no assertion criteria provided literature only
OMIM RCV000018996 SCV000039283 pathogenic Recessive dystrophic epidermolysis bullosa 1999-11-01 no assertion criteria provided literature only

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