ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) (rs61735853)

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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 RCV000079805 SCV000111688 benign not specified 2012-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000079805 SCV000519254 benign not specified 2016-03-28 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 RCV000079805 SCV000150794 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 RCV000292706 SCV000436574 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000526493 SCV000657048 benign Bethlem myopathy 1 2018-01-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079805 SCV000308213 benign not specified criteria provided, single submitter clinical testing

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