ClinVar Miner

Submissions for variant NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447823 SCV004175645 uncertain significance Bethlem myopathy 1A 2022-10-27 criteria provided, single submitter clinical testing

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