ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3454-488_4182+2588dup

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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 (UMR_S 1112), INSERM/Strasbourg University RCV000626457 SCV000746983 pathogenic Saldino-Mainzer syndrome 2018-01-01 criteria provided, single submitter research
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000626458 SCV000746984 pathogenic Saldino-Mainzer syndrome; Joubert syndrome with Jeune asphyxiating thoracic dystrophy 2018-01-01 criteria provided, single submitter research
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000626459 SCV000746985 pathogenic Saldino-Mainzer syndrome; Cranioectodermal dysplasia 2018-01-01 criteria provided, single submitter research

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