ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.357-17C>T

gnomAD frequency: 0.00005  dbSNP: rs782356785
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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 RCV002143234 SCV002459556 likely benign Diamond-Blackfan anemia 2021-11-12 criteria provided, single submitter clinical testing

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