ClinVar Miner

Submissions for variant NM_004056.6(CA8):c.-54A>C

gnomAD frequency: 0.60710  dbSNP: rs10101374
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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 RCV001554753 SCV001776056 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713055 SCV001942360 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713055 SCV005268335 benign not provided criteria provided, single submitter not provided

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