ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) (rs34558385)

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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 RCV000081002 SCV000112909 benign not specified 2012-08-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081002 SCV000310227 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405566 SCV000428736 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000081002 SCV000519384 benign not specified 2016-01-05 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.
Athena Diagnostics Inc RCV000576864 SCV000677206 benign Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-06-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081002 SCV000150856 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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