ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)

dbSNP: rs2106317762
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226905 SCV002505803 pathogenic Ullrich congenital muscular dystrophy 1A 2021-08-01 criteria provided, single submitter clinical testing

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