ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4120-9C>A

gnomAD frequency: 0.00038  dbSNP: rs199914077
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 RCV000924721 SCV001070241 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272611 SCV001454721 uncertain significance Epidermolysis bullosa dystrophica 2020-01-24 no assertion criteria provided clinical testing

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