Submissions for variant NM_033022.4(RPS24):c.*21C>T

gnomAD frequency: 0.00038  dbSNP: rs114512325

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000276044	SCV000365269	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.
CeGaT Center for Human Genetics Tuebingen	RCV003417979	SCV004125841	benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	RPS24: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003930271	SCV004755102	likely benign	RPS24-related condition	2020-08-08	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).