ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.6+8G>C

gnomAD frequency: 0.00004  dbSNP: rs201469553
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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 RCV001816968 SCV002067019 likely benign not specified 2021-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064512 SCV002374874 likely benign Diamond-Blackfan anemia 2024-10-03 criteria provided, single submitter clinical testing

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