ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1667A>G (p.His556Arg)

gnomAD frequency: 0.00073  dbSNP: rs137925718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000363728 SCV000341795 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088869 SCV001020644 benign Saldino-Mainzer syndrome 2025-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949907 SCV004775838 likely benign IFT140-related disorder 2023-03-22 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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