ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3141+1G>T (rs764770536)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, INSERM RCV000626463 SCV000746990 pathogenic Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 2018-01-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091435 SCV001247486 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing

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