ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2622C>T (p.His874=)

gnomAD frequency: 0.00018  dbSNP: rs368634417
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 RCV000945245 SCV001091235 likely benign not provided 2024-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827035 SCV002079283 likely benign Epidermolysis bullosa dystrophica 2020-01-30 no assertion criteria provided clinical testing

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