ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)

gnomAD frequency: 0.00046  dbSNP: rs147744868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211918 SCV001383482 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001751388 SCV001987537 uncertain significance not provided 2019-06-25 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
New York Genome Center RCV003336334 SCV004046601 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548066 SCV004756650 likely benign IFT172-related disorder 2020-09-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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