ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2922G>A (p.Ala974=)

gnomAD frequency: 0.00018  dbSNP: rs201864536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001506677 SCV001711607 likely benign Saldino-Mainzer syndrome 2023-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392683 SCV004133718 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing IFT140: BP4, BP7
Dept Of Ophthalmology, Nagoya University RCV003890035 SCV004704973 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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