ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs)

dbSNP: rs1788833484
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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 Genetics in Ophthalmology, Institut Imagine RCV001172383 SCV001335441 pathogenic Joubert syndrome with ocular defect no assertion criteria provided research

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