ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.81G>A (p.Ser27=) (rs111639540)

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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 RCV000294819 SCV000345337 likely benign not specified 2016-09-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289970 SCV000436614 benign Collagen VI-related myopathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000328566 SCV000436615 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000294819 SCV000721767 likely benign not specified 2017-08-02 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 RCV001082516 SCV000775567 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000653684 SCV001153583 likely benign not provided 2017-12-01 criteria provided, single submitter clinical testing

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