ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1338T>C (p.Asn446=)

gnomAD frequency: 0.00780  dbSNP: rs61743327
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085606 SCV000656441 benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000841308 SCV000983269 benign not provided 2018-04-02 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.
Genetic Services Laboratory, University of Chicago RCV001821644 SCV002070888 benign not specified 2017-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497189 SCV002808454 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000841308 SCV005246109 benign not provided criteria provided, single submitter not provided

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