ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.118G>A (p.Asp40Asn)

dbSNP: rs1553285006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626216 SCV000746861 uncertain significance Diamond-Blackfan anemia 6 2020-05-03 criteria provided, single submitter clinical testing

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