ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.356+12del

gnomAD frequency: 0.00001  dbSNP: rs781789110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002096215 SCV002395599 likely benign Diamond-Blackfan anemia 2023-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486875 SCV002801769 likely benign Diamond-Blackfan anemia 1 2021-12-14 criteria provided, single submitter clinical testing

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