ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala)

gnomAD frequency: 0.00110  dbSNP: rs138612238
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799509 SCV001441391 uncertain significance Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 2020-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001426023 SCV001628666 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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