ClinVar Miner

Submissions for variant NM_004136.4(IREB2):c.1739T>C (p.Ile580Thr)

gnomAD frequency: 0.96873  dbSNP: rs2230940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731019 SCV001980719 benign Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538703 SCV003344483 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002538703 SCV005291272 benign not provided criteria provided, single submitter not provided

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