ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2766C>T (p.Asp922=)

gnomAD frequency: 0.00021  dbSNP: rs201424023
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 RCV000903175 SCV001047630 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273334 SCV001456293 benign Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 no assertion criteria provided clinical testing

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