ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2243A>G (p.His748Arg)

dbSNP: rs2033204478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075502 SCV001241126 uncertain significance Retinal dystrophy 2018-11-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326537 SCV004033422 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing IFT140: PM2, PM3:Supporting, PP4, BP4

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