ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2247C>T (p.His749=)

gnomAD frequency: 0.00312  dbSNP: rs9930526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877893 SCV001020702 benign Saldino-Mainzer syndrome 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930455 SCV004746360 benign IFT140-related condition 2019-08-02 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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