ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)

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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 RCV003447813 SCV004175614 uncertain significance Bethlem myopathy 1A 2022-11-25 criteria provided, single submitter clinical testing

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