ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.264T>C (p.Ser88=)

gnomAD frequency: 0.00002  dbSNP: rs1244488439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002153228 SCV002454313 likely benign Diamond-Blackfan anemia 8 2020-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004823009 SCV005493671 likely benign Diamond-Blackfan anemia 2024-12-09 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.

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