ClinVar Miner

Submissions for variant NM_002913.5(RFC1):c.4-26G>A

gnomAD frequency: 0.97561  dbSNP: rs4975007
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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 RCV001794898 SCV002033579 benign Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716823 SCV005299039 benign not provided criteria provided, single submitter not provided

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