ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.2487C>T (p.Leu829=) (rs752530417)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544840 SCV000657270 likely benign Bethlem myopathy 1 2017-01-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734326 SCV000862457 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing

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