ClinVar Miner

Submissions for variant NM_004136.4(IREB2):c.2781+23T>C

gnomAD frequency: 0.15129  dbSNP: rs2292116
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731022 SCV001980722 benign Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715545 SCV005291276 benign not provided criteria provided, single submitter not provided

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