ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)

dbSNP: rs2044195363
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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 RCV001493342 SCV001697965 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279708 SCV001466827 uncertain significance Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-11-06 no assertion criteria provided clinical testing

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