ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) (rs61735829)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079873 SCV000111756 benign not specified 2012-11-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079873 SCV000308285 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292788 SCV000436743 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352815 SCV000436744 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079873 SCV000523020 benign not specified 2016-05-18 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.
Invitae RCV000710894 SCV000657131 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710894 SCV000841202 benign not provided 2017-11-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079873 SCV000150810 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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