ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2040dup (p.Ile681fs) (rs886039905)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000256480 SCV000323245 likely pathogenic Ullrich congenital muscular dystrophy 1 2014-01-01 no assertion criteria provided research

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