ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2871G>A (p.Leu957=) (rs548194162)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000176860 SCV000228617 benign not specified 2015-04-28 criteria provided, single submitter clinical testing
Invitae RCV000556046 SCV000657182 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000176860 SCV000714631 likely benign not specified 2017-10-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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