ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.72-92A>G

gnomAD frequency: 0.00146  dbSNP: rs566047445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226958 SCV000285674 likely benign Diamond-Blackfan anemia 2016-01-18 criteria provided, single submitter clinical testing

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