ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)

dbSNP: rs121434554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247356 SCV002518762 pathogenic Bethlem myopathy 1A 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV003764590 SCV000038974 pathogenic Ullrich congenital muscular dystrophy 1C 2002-06-01 no assertion criteria provided literature only

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