ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.291T>C (p.Leu97=)

dbSNP: rs2107802175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001444623 SCV001647633 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832571 SCV002081684 likely benign Epidermolysis bullosa dystrophica 2021-06-07 no assertion criteria provided clinical testing

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