Submissions for variant NM_001029.5(RPS26):c.291C>T (p.Pro97=)

gnomAD frequency: 0.00001  dbSNP: rs766621663

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001114595	SCV001272495	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV001114595	SCV002374100	likely benign	Diamond-Blackfan anemia 10	2022-04-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001114595	SCV002808790	likely benign	Diamond-Blackfan anemia 10	2021-12-09	criteria provided, single submitter	clinical testing