ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.378C>T (p.His126=)

gnomAD frequency: 0.00001  dbSNP: rs764498089
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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 RCV000870332 SCV001011824 likely benign Diamond-Blackfan anemia 8 2022-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000870332 SCV002806359 likely benign Diamond-Blackfan anemia 8 2021-11-06 criteria provided, single submitter clinical testing

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