ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.883G>A (p.Val295Ile)

gnomAD frequency: 0.00001  dbSNP: rs762792738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243338 SCV001416489 likely benign Saldino-Mainzer syndrome 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001773548 SCV002003835 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Dept Of Ophthalmology, Nagoya University RCV003887959 SCV004705029 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005012675 SCV005638744 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-03-18 criteria provided, single submitter clinical testing

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