ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr)

gnomAD frequency: 0.00032  dbSNP: rs114596320
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000396697 SCV000428696 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.
GeneDx RCV000428268 SCV000525246 benign not specified 2017-07-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000653682 SCV000775565 benign Bethlem myopathy 1A 2024-01-18 criteria provided, single submitter clinical testing
Department of Neurology, Xijing Hospital, Fourth Military Medical University RCV002298572 SCV002586283 uncertain significance Dystonia 27 2022-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549762 SCV004740345 benign COL6A3-related disorder 2020-09-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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