ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) (rs117931394)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000116794 SCV000613013 benign not specified 2016-12-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116794 SCV000228613 benign not specified 2015-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000116794 SCV000519953 benign not specified 2016-06-10 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 RCV000116794 SCV000150818 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 RCV000281717 SCV000436826 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339033 SCV000436827 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290682 SCV000483965 likely benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000557640 SCV000657191 benign Bethlem myopathy 1 2017-07-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116794 SCV000308308 likely benign not specified criteria provided, single submitter clinical testing

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