ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.444C>T (p.Thr148=)

gnomAD frequency: 0.00028  dbSNP: rs149897629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819329 SCV002069499 likely benign not specified 2018-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074302 SCV002449342 benign Diamond-Blackfan anemia 2024-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478053 SCV002802774 likely benign Diamond-Blackfan anemia 9 2021-10-04 criteria provided, single submitter clinical testing

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