ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)

gnomAD frequency: 0.00009  dbSNP: rs200802373
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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 RCV002069406 SCV002353559 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277626 SCV001464590 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-19 no assertion criteria provided clinical testing

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