ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.189+267G>C

gnomAD frequency: 0.00053  dbSNP: rs138979590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Laboratory Sciences, Imam Abdulrahman Bin Faisal University RCV001030052 SCV001147006 risk factor Diamond-Blackfan anemia 6 criteria provided, single submitter research

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