ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp)

gnomAD frequency: 0.00088  dbSNP: rs146818399
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724440 SCV000228085 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194823 SCV000247603 uncertain significance not specified 2015-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086963 SCV001097261 likely benign Cranioectodermal dysplasia 1 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000724440 SCV001776644 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing 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

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