ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3499A>T (p.Ile1167Phe) (rs886042996)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000367831 SCV000337793 uncertain significance not provided 2015-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765644 SCV000896973 uncertain significance Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 2018-10-31 criteria provided, single submitter clinical testing

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