ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) (rs141166141)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079850 SCV000111733 benign not specified 2012-10-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079850 SCV000308261 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366671 SCV000436693 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 RCV000271630 SCV000436694 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001082248 SCV000657111 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710889 SCV000841197 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079850 SCV000150803 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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