Submissions for variant NM_001014.5(RPS10):c.408C>T (p.Ala136=)

gnomAD frequency: 0.00213  dbSNP: rs147566753

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001095075	SCV000462633	benign	Diamond-Blackfan anemia 9	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.
Invitae	RCV000400619	SCV000563143	benign	Diamond-Blackfan anemia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001556357	SCV001777924	likely benign	not provided	2021-01-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821086	SCV002069821	benign	not specified	2020-12-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000400619	SCV002628262	likely benign	Diamond-Blackfan anemia	2018-01-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV001095075	SCV002810830	likely benign	Diamond-Blackfan anemia 9	2021-12-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922574	SCV004739114	likely benign	RPS10-related condition	2020-12-04	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).
PreventionGenetics, part of Exact Sciences	RCV003922575	SCV004744692	likely benign	RPS10-NUDT3-related condition	2020-12-04	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).