ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2551G>A (p.Val851Met)

gnomAD frequency: 0.00012  dbSNP: rs754753583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176094 SCV000227692 uncertain significance not provided 2014-12-04 criteria provided, single submitter clinical testing
Invitae RCV001039003 SCV001202509 likely benign Saldino-Mainzer syndrome 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492757 SCV002799738 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955044 SCV004769310 likely benign IFT140-related condition 2022-11-01 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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