ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) (rs115551245)

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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 RCV000723676 SCV000112847 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242148 SCV000310179 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347648 SCV000428798 benign Collagen VI-related myopathy 2018-01-12 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.
Invitae RCV001079752 SCV000775503 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing

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