ClinVar Miner

Submissions for variant NM_002913.5(RFC1):c.331+25G>T

gnomAD frequency: 0.41060  dbSNP: rs2306596
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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 RCV001794897 SCV002033578 benign Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716822 SCV005299038 benign not provided criteria provided, single submitter not provided

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