ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr)

gnomAD frequency: 0.00712  dbSNP: rs61742074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426896 SCV000517165 benign not specified 2017-01-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000538712 SCV000656448 benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000426896 SCV002070882 benign not specified 2018-02-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418114 SCV004143958 benign not provided 2024-03-01 criteria provided, single submitter clinical testing IFT172: BP4, BS1, BS2

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