ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8177C>T (p.Pro2726Leu)

gnomAD frequency: 0.00004  dbSNP: rs372495014
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370138 SCV001566603 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826084 SCV002079189 uncertain significance Epidermolysis bullosa dystrophica 2020-12-04 no assertion criteria provided clinical testing

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