ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.951G>A (p.Glu317=)

gnomAD frequency: 0.00001  dbSNP: rs1482481603
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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 RCV000917484 SCV001062762 likely benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273601 SCV001456763 uncertain significance Epidermolysis bullosa dystrophica 2020-01-24 no assertion criteria provided clinical testing

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