ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val)

dbSNP: rs779603114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754612 SCV001996165 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV003448416 SCV004176168 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2023-09-01 criteria provided, single submitter clinical testing

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