ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.325-16T>C

dbSNP: rs1687116560
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002100607 SCV002387039 likely benign Diamond-Blackfan anemia 2021-03-20 criteria provided, single submitter clinical testing

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