ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)

gnomAD frequency: 0.00002  dbSNP: rs773372123
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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
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002703 SCV001156406 pathogenic Saldino-Mainzer syndrome 2019-02-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504730 SCV000599127 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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