ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5424C>T (p.Asp1808=)

gnomAD frequency: 0.00083  dbSNP: rs755720544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001504967 SCV001709855 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832668 SCV002079231 likely benign Epidermolysis bullosa dystrophica 2020-01-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004751997 SCV005361229 likely benign COL7A1-related disorder 2024-06-26 no assertion criteria provided 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).

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