ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs)

dbSNP: rs1555474009
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000626466 SCV000746993 pathogenic Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 2018-01-01 criteria provided, single submitter research

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