ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.71+12del

dbSNP: rs886054470
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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 RCV000266291 SCV000413385 uncertain significance Diamond-Blackfan anemia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000266291 SCV004561607 benign Diamond-Blackfan anemia 2023-04-11 criteria provided, single submitter clinical testing

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