ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.42C>T (p.Gly14=)

gnomAD frequency: 0.00001  dbSNP: rs771196681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820485 SCV002069970 uncertain significance not specified 2019-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003507399 SCV004268793 likely benign Diamond-Blackfan anemia 10 2022-10-29 criteria provided, single submitter clinical testing

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