ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.997G>A (p.Val333Met) (rs201525908)

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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 RCV000318177 SCV000333327 likely benign not specified 2015-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000318177 SCV000534652 likely benign not specified 2017-10-06 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 RCV000362036 SCV000436501 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000536586 SCV000657089 likely benign Bethlem myopathy 1 2017-12-19 criteria provided, single submitter clinical testing

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