ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) (rs140547835)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224755 SCV000281001 likely benign not provided 2015-04-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079790 SCV000111673 benign not specified 2013-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000079790 SCV000524046 benign not specified 2016-03-04 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 RCV000079790 SCV000150787 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 RCV000350340 SCV000436558 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547752 SCV000657027 benign Bethlem myopathy 1 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079790 SCV000308194 benign not specified criteria provided, single submitter clinical testing

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