ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1671+10A>G (rs915786)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079853 SCV000111736 benign not specified 2012-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000079853 SCV000515920 benign not specified 2015-12-30 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.
Genetic Services Laboratory, University of Chicago RCV000079853 SCV000150805 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.
Illumina Clinical Services Laboratory,Illumina RCV000284926 SCV000436703 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339110 SCV000436704 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079853 SCV000308265 benign not specified criteria provided, single submitter clinical testing

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