ClinVar Miner

Submissions for variant NM_001014.4(RPS10):c.-47A>G

gnomAD frequency: 0.00004  dbSNP: rs529023165
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000294645 SCV000462648 likely benign Diamond-Blackfan anemia 2016-06-14 criteria provided, single submitter clinical testing

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