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

gnomAD frequency: 0.00056  dbSNP: rs181174349

Total submissions: 5

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	2023-03-01	criteria provided, single submitter	clinical testing	RPS26: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003910146	SCV004724518	likely benign	RPS26-related condition	2021-01-02	criteria provided, single submitter	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).