ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)

gnomAD frequency: 0.00703  dbSNP: rs35273032
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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) RCV000080947 SCV000112854 benign not specified 2013-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000080947 SCV000310184 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385545 SCV000428790 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 RCV001703998 SCV000530269 benign not provided 2018-05-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15689448)
Labcorp Genetics (formerly Invitae), Labcorp RCV000545987 SCV000657333 benign Bethlem myopathy 1A 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498422 SCV002813192 likely benign Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27 2021-08-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001703998 SCV005246225 benign not provided criteria provided, single submitter not provided

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