ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.579C>T (p.Pro193=) (rs61751027)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000251409 SCV000519244 likely benign not specified 2016-08-02 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 RCV000316431 SCV000436486 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000550561 SCV000657070 benign Bethlem myopathy 1 2017-12-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251409 SCV000308226 likely benign not specified criteria provided, single submitter clinical testing

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