ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=)

gnomAD frequency: 0.00178  dbSNP: rs113781746
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153098 SCV000202555 likely benign not specified 2014-03-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153098 SCV000310164 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277957 SCV000428825 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.
CeGaT Center for Human Genetics Tuebingen RCV000416096 SCV000493437 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing COL6A3: BP4, BP7
GeneDx RCV000416096 SCV000532094 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080193 SCV000657287 benign Bethlem myopathy 1A 2025-02-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000416096 SCV001979170 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000416096 SCV001980297 likely benign not provided no assertion criteria provided clinical testing

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