ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.794+121G>A

gnomAD frequency: 0.58918  dbSNP: rs10874744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273053 SCV000359149 benign Diamond-Blackfan anemia 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713708 SCV005281482 benign not provided criteria provided, single submitter not provided

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