ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.2236C>A (p.Leu746Ile) (rs755052076)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662165 SCV000784513 uncertain significance Ullrich congenital muscular dystrophy 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662166 SCV000784514 uncertain significance Bethlem myopathy 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662167 SCV000784515 uncertain significance Dystonia 27 2018-03-05 criteria provided, single submitter clinical testing

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