ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.-57T>G

gnomAD frequency: 0.01649  dbSNP: rs115744844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541031 SCV001758981 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001541031 SCV005303912 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001826388 SCV002081686 benign Epidermolysis bullosa dystrophica 2019-10-17 no assertion criteria provided clinical testing

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