ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) (rs34503558)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116797 SCV000310168 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116797 SCV000525732 benign not specified 2016-06-08 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.
Invitae RCV000525877 SCV000657300 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116797 SCV000703392 benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116797 SCV000150836 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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