ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5821-61C>T

gnomAD frequency: 0.15135  dbSNP: rs9881877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001609681 SCV001837699 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001609681 SCV005301841 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001827548 SCV002079229 benign Epidermolysis bullosa dystrophica 2019-09-14 no assertion criteria provided clinical testing

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