ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) (rs138884734)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576536 SCV000677190 benign Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-05-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224129 SCV000281554 benign not provided 2015-11-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079781 SCV000111664 benign not specified 2012-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000079781 SCV000529141 benign not specified 2016-09-29 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 RCV000079781 SCV000150785 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 RCV000353792 SCV000436547 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556007 SCV000657016 benign Bethlem myopathy 1 2017-12-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079781 SCV000308189 benign not specified 2016-02-25 criteria provided, single submitter clinical testing

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