ClinVar Miner

Submissions for variant NM_006013.5(RPL10):c.605= (p.Ser202=)

gnomAD frequency: 0.69154  dbSNP: rs4909
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081344 SCV000113275 benign not specified 2013-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311629 SCV000846099 benign Inborn genetic diseases 2015-06-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics RCV004713245 SCV005275126 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000081344 SCV000152547 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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