ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)

dbSNP: rs142668269
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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 RCV001237799 SCV001410577 likely benign Saldino-Mainzer syndrome 2024-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001773540 SCV001992879 uncertain significance not provided 2019-07-03 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
Fulgent Genetics, Fulgent Genetics RCV002491769 SCV002782916 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-27 criteria provided, single submitter clinical testing

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