ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.92G>C (p.Arg31Thr)

gnomAD frequency: 0.00001  dbSNP: rs1327054264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331512 SCV001523559 uncertain significance Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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