ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)

gnomAD frequency: 0.00122  dbSNP: rs112545558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945491 SCV001091512 likely benign Saldino-Mainzer syndrome 2024-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074634 SCV001240226 uncertain significance Retinal dystrophy 2019-02-06 criteria provided, single submitter clinical testing
GeneDx RCV001772171 SCV001992877 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003913196 SCV004731154 likely benign IFT140-related condition 2022-07-06 criteria provided, single submitter 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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