ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.76-12G>C

dbSNP: rs2147819267
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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 RCV002101151 SCV002394003 likely benign Diamond-Blackfan anemia 8 2021-04-17 criteria provided, single submitter clinical testing

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