ClinVar Miner

Submissions for variant NM_000987.5(RPL26):c.-5-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV004527283 SCV004099496 likely pathogenic Diamond-Blackfan anemia 11 2023-01-01 criteria provided, single submitter clinical testing

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