ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2623+1G>T (rs751823180)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000791182 SCV000930463 pathogenic Joubert syndrome 3 2019-04-27 criteria provided, single submitter clinical testing
Mendelics RCV000987786 SCV001137239 pathogenic Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing

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