ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.3+11G>A

dbSNP: rs376414614
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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 RCV001820216 SCV002070786 likely benign not specified 2019-06-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489876 SCV002802529 likely benign Diamond-Blackfan anemia 6 2022-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542592 SCV003275846 benign Diamond-Blackfan anemia 2024-04-15 criteria provided, single submitter clinical testing

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