ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter)

dbSNP: rs121912937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000018719 SCV000039002 pathogenic Ullrich congenital muscular dystrophy 1A 2005-09-01 no assertion criteria provided literature only

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