ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.511C>T (p.Arg171Trp)

gnomAD frequency: 0.00002  dbSNP: rs1064794186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478510 SCV000568126 uncertain significance not provided 2019-09-10 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
Fulgent Genetics, Fulgent Genetics RCV002475932 SCV002785675 uncertain significance Cranioectodermal dysplasia 1 2021-12-22 criteria provided, single submitter clinical testing

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