ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.315T>A (p.Gly105=)

gnomAD frequency: 0.00001  dbSNP: rs554297156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081120 SCV002378618 likely benign Diamond-Blackfan anemia 10 2022-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002081120 SCV002808613 likely benign Diamond-Blackfan anemia 10 2022-04-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161448 SCV003863715 likely benign Diamond-Blackfan anemia 2022-12-14 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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