ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1721G>A (p.Arg574Gln)

gnomAD frequency: 0.00004  dbSNP: rs201227573
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042836 SCV001206541 likely benign Bethlem myopathy 1 2022-10-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001142786 SCV001303269 benign Collagen 6-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.
Revvity Omics, Revvity RCV003145276 SCV003833880 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483761 SCV004228665 not provided Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-10-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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