ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.483C>T (p.Thr161=) (rs138312213)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177137 SCV000228968 likely benign not specified 2014-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000177137 SCV000717264 likely benign not specified 2017-09-28 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.
Illumina Clinical Services Laboratory,Illumina RCV000357943 SCV000436627 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265513 SCV000436628 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000546366 SCV000657204 benign Bethlem myopathy 1 2017-05-30 criteria provided, single submitter clinical testing

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