ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2944A>G (p.Met982Val) (rs190664941)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176864 SCV000228621 benign not specified 2014-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275063 SCV000436820 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332444 SCV000436821 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549645 SCV000657190 benign Bethlem myopathy 1 2017-12-21 criteria provided, single submitter clinical testing

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