ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro)

gnomAD frequency: 0.00001  dbSNP: rs1555491448
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000626468 SCV000746995 pathogenic Saldino-Mainzer syndrome 2018-01-01 criteria provided, single submitter research

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