ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6800A>G (p.Lys2267Arg)

dbSNP: rs574558938
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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 RCV000915677 SCV001060893 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832065 SCV002079210 benign Epidermolysis bullosa dystrophica 2020-01-29 no assertion criteria provided clinical testing

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