ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.4612C>T (p.Arg1538Cys) (rs149711883)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224557 SCV000280866 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000376957 SCV000445109 uncertain significance Dystrophic epidermolysis bullosa 2016-06-14 criteria provided, single submitter clinical testing

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