ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.940+5G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV002292697 SCV002584972 pathogenic Infantile cerebellar-retinal degeneration 2022-10-19 no assertion criteria provided literature only

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