ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.381T>A (p.Gly127=)

gnomAD frequency: 0.00001  dbSNP: rs1251386648
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001502211 SCV001707036 likely benign Diamond-Blackfan anemia 2023-07-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820211 SCV002071818 likely benign not specified 2021-08-02 criteria provided, single submitter clinical testing

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