ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1140C>T (p.Arg380=)

gnomAD frequency: 0.00202  dbSNP: rs144482400
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000389129 SCV000345336 likely benign not specified 2016-09-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262159 SCV000436671 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321990 SCV000436672 benign Collagen 6-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.
GeneDx RCV000653640 SCV000721768 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082515 SCV000775523 benign Bethlem myopathy 1A 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000653640 SCV001153586 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing COL6A2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000653640 SCV005207682 likely benign not provided criteria provided, single submitter not provided

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