ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.543G>A (p.Thr181=)

gnomAD frequency: 0.00005  dbSNP: rs776954129
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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 RCV001426475 SCV001629128 likely benign Diamond-Blackfan anemia 8 2023-07-27 criteria provided, single submitter clinical testing

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