ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.936C>T (p.Leu312=) (rs377629176)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000402653 SCV000335295 uncertain significance not provided 2015-09-10 criteria provided, single submitter clinical testing
Invitae RCV001079095 SCV000657454 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing

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