Submissions for variant NM_033022.4(RPS24):c.371A>G (p.Asn124Ser)

gnomAD frequency: 0.00081  dbSNP: rs147128920

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000229998	SCV000291150	likely benign	Diamond-Blackfan anemia	2023-12-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001093983	SCV000365267	benign	Diamond-Blackfan anemia 3	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	RCV001820770	SCV002068515	likely benign	not specified	2019-06-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977688	SCV004794828	likely benign	RPS24-related condition	2023-07-25	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).