ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) (rs11553519)

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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 RCV000079809 SCV000111692 benign not specified 2012-08-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079809 SCV000308218 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264634 SCV000436482 benign Collagen VI-related myopathy 2018-03-06 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.
GeneDx RCV000079809 SCV000521256 benign not specified 2016-01-11 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079809 SCV000538721 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 531/13002=4%
Invitae RCV000559065 SCV000657062 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991644 SCV001143271 benign not provided 2019-05-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000079809 SCV000150798 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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