ClinVar Miner

Submissions for variant NM_033022.4(RPS24):c.235C>T (p.Leu79=)

gnomAD frequency: 0.00016  dbSNP: rs192994060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV001093982 SCV000365264 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.
Invitae RCV000300971 SCV001007341 benign Diamond-Blackfan anemia 2022-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001820876 SCV002067173 likely benign not specified 2018-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000300971 SCV002734504 likely benign Diamond-Blackfan anemia 2016-10-13 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 RCV001093982 SCV002802020 likely benign Diamond-Blackfan anemia 3 2021-09-14 criteria provided, single submitter clinical testing

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