ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.*56T>G (rs148337125)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509250 SCV000607054 not provided Bethlem myopathy 1 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 RCV000287273 SCV000436846 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344661 SCV000436847 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing

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