ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.874G>A (p.Val292Met)

dbSNP: rs431905521
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Total submissions: 4
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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 RCV000626469 SCV000746996 pathogenic Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 2018-01-01 criteria provided, single submitter research
OMIM RCV000083297 SCV000115377 pathogenic Saldino-Mainzer syndrome 2013-05-01 no assertion criteria provided literature only
Dan Cohn Lab, University Of California Los Angeles RCV000515922 SCV000612043 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515922 SCV001479396 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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