ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter)

dbSNP: rs2077858751
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730024 SCV001976773 pathogenic Ullrich congenital muscular dystrophy 1A 2021-08-10 criteria provided, single submitter clinical testing PVS1, PM2, PM3, PP3

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