ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) (rs115551245)

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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 RCV000723676 SCV000112847 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242148 SCV000310179 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347648 SCV000428798 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653620 SCV000775503 likely benign Bethlem myopathy 1 2018-01-03 criteria provided, single submitter clinical testing

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