ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)

gnomAD frequency: 0.00043  dbSNP: rs113216558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591433 SCV000705352 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001224336 SCV001396526 likely benign Saldino-Mainzer syndrome 2025-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000591433 SCV001988562 uncertain significance not provided 2019-07-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
AiLife Diagnostics, AiLife Diagnostics RCV000591433 SCV002502445 uncertain significance not provided 2021-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497267 SCV002812091 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-10 criteria provided, single submitter clinical testing

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