ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2944A>G (p.Met982Val) (rs190664941)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176864 SCV000228621 benign not specified 2014-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275063 SCV000436820 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 RCV000332444 SCV000436821 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000549645 SCV000657190 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing

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