ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1006del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796424 SCV005418862 pathogenic Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PM3_Supporting+PP4

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