ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.3469G>A (p.Val1157Ile)

gnomAD frequency: 0.00002  dbSNP: rs750102430
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001372088 SCV001568683 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836377 SCV002079266 uncertain significance Epidermolysis bullosa dystrophica 2020-10-30 no assertion criteria provided clinical testing

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