ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) (rs1042930)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116793 SCV000202543 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116793 SCV000308299 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290550 SCV000436786 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347826 SCV000436787 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352852 SCV000483960 likely benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000554539 SCV000657156 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000116793 SCV000713887 benign not specified 2017-02-13 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 RCV000116793 SCV000150813 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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