ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) (rs112913396)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080915 SCV000112822 likely benign not specified 2015-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000585455 SCV000196798 likely benign not provided 2021-02-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25214167, 23040494, 24038877, 28097933, 30467950)
Illumina Clinical Services Laboratory,Illumina RCV000349518 SCV000428858 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.
Invitae RCV001080317 SCV000657257 likely benign Bethlem myopathy 1 2020-12-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585455 SCV000693045 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing

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