ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) (rs121918129)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201569 SCV000256426 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research
Blueprint Genetics RCV001073387 SCV001238928 pathogenic Retinal dystrophy 2019-01-11 criteria provided, single submitter clinical testing
OMIM RCV000022404 SCV000043089 pathogenic Joubert syndrome 1 2009-09-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000022404 SCV001133049 pathogenic Joubert syndrome 1 2019-09-26 no assertion criteria provided clinical testing

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