ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.-3A>G

gnomAD frequency: 0.00056  dbSNP: rs181174349
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273311 SCV000380334 benign Diamond-Blackfan anemia 10 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.
Genetic Services Laboratory, University of Chicago RCV001820914 SCV002068224 benign not specified 2021-06-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000273311 SCV002802625 likely benign Diamond-Blackfan anemia 10 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389788 SCV004133448 benign not provided 2024-06-01 criteria provided, single submitter clinical testing RPS26: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003389788 SCV005233014 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910146 SCV004724518 likely benign RPS26-related disorder 2021-01-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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