ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.874G>A (p.Val292Met) (rs431905521)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, INSERM RCV000626469 SCV000746996 pathogenic Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 2018-01-01 criteria provided, single submitter research
OMIM RCV000083297 SCV000115377 pathogenic Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 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

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