ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)

gnomAD frequency: 0.00006  dbSNP: rs147556035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315861 SCV001506454 likely benign Saldino-Mainzer syndrome 2024-12-29 criteria provided, single submitter clinical testing
GeneDx RCV001773631 SCV002003549 uncertain significance not provided 2021-04-08 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
Fulgent Genetics, Fulgent Genetics RCV002486238 SCV002776714 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-07-07 criteria provided, single submitter clinical testing

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