ClinVar Miner

Submissions for variant NM_033022.4(RPS24):c.21C>T (p.Ile7=)

gnomAD frequency: 0.00003  dbSNP: rs762233086
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001451962 SCV001655604 likely benign Diamond-Blackfan anemia 2024-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050380 SCV005682964 uncertain significance Diamond-Blackfan anemia 3 2024-02-06 criteria provided, single submitter clinical testing

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