ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.8202C>T (p.Gly2734=)

gnomAD frequency: 0.00005  dbSNP: rs200292228
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 RCV000944380 SCV001090350 likely benign not provided 2024-06-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827020 SCV002079188 likely benign Epidermolysis bullosa dystrophica 2021-04-27 no assertion criteria provided clinical testing

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