ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=)

dbSNP: rs1575449774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943784 SCV001089738 likely benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275994 SCV001461697 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2019-12-30 no assertion criteria provided clinical testing

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