ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5798G>A (p.Arg1933Gln)

gnomAD frequency: 0.00013  dbSNP: rs201722048
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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 RCV002541720 SCV003523105 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279717 SCV001466836 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-08-21 no assertion criteria provided clinical testing

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