ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466961 SCV002761954 uncertain significance Bethlem myopathy 1A 2022-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002466961 SCV003788651 benign Bethlem myopathy 1A 2022-07-11 criteria provided, single submitter clinical testing

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