ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) (rs2646265)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576649 SCV000677199 benign Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-06-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080980 SCV000112887 benign not specified 2012-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000080980 SCV000519267 benign not specified 2016-01-26 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 RCV000080980 SCV000150848 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 RCV000365938 SCV000428758 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080980 SCV000310213 benign not specified criteria provided, single submitter clinical testing

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