ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1065C>T (p.Ala355=)

gnomAD frequency: 0.00019  dbSNP: rs115155458
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000356610 SCV000342768 uncertain significance not provided 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088083 SCV000657239 benign Bethlem myopathy 1A 2023-07-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139347 SCV001299482 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.
Department of Neurology, Xijing Hospital, Fourth Military Medical University RCV002298566 SCV002586279 uncertain significance Dystonia 27 2022-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021258 SCV004929531 likely benign Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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