ClinVar Miner

Submissions for variant NM_002913.5(RFC1):c.2541A>G (p.Pro847=)

gnomAD frequency: 0.55849  dbSNP: rs2066786
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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 RCV001794896 SCV002033577 benign Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716821 SCV005299034 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003984108 SCV004796964 benign RFC1-related disorder 2019-10-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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