ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) (rs117725825)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000149938 SCV000228615 likely benign not specified 2016-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000149938 SCV000196789 likely benign not specified 2018-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000149938 SCV000594200 uncertain significance not specified 2016-01-13 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000359356 SCV000840283 not provided Collagen VI-related myopathy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Illumina Clinical Services Laboratory,Illumina RCV000302217 SCV000436812 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359356 SCV000436813 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000018704 SCV000657174 likely benign Bethlem myopathy 1 2017-12-13 criteria provided, single submitter clinical testing
OMIM RCV000018704 SCV000038987 pathogenic Bethlem myopathy 1 2007-10-01 no assertion criteria provided literature only

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