ClinVar Miner

Submissions for variant NM_001098.3(ACO2):c.836-118C>T

gnomAD frequency: 0.36682  dbSNP: rs9619974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548945 SCV001768957 benign Optic atrophy 9 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548946 SCV001768958 benign Infantile cerebellar-retinal degeneration 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001638157 SCV001847865 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001638157 SCV005274058 benign not provided criteria provided, single submitter not provided

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