ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.261G>A (p.Pro87=)

gnomAD frequency: 0.00008  dbSNP: rs781484971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528370 SCV000637223 likely benign Diamond-Blackfan anemia 2024-08-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821536 SCV002070685 uncertain significance not specified 2019-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000528370 SCV002745633 likely benign Diamond-Blackfan anemia 2022-02-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics RCV002483409 SCV002783675 likely benign Diamond-Blackfan anemia 9 2024-04-02 criteria provided, single submitter clinical testing

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