ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3966C>T (p.Pro1322=)

gnomAD frequency: 0.00001  dbSNP: rs181794285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001818786 SCV002069463 likely benign not specified 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV002065734 SCV002373427 likely benign Saldino-Mainzer syndrome 2023-12-02 criteria provided, single submitter clinical testing

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