ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)

dbSNP: rs2141175065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591787 SCV001815881 uncertain significance Retinitis pigmentosa 80 2021-06-16 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV001591786 SCV001815882 uncertain significance Leber congenital amaurosis 2021-06-16 criteria provided, single submitter clinical testing

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