ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) (rs145665129)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201645 SCV000256461 pathogenic Joubert syndrome 7 2015-02-23 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733537 SCV000861616 pathogenic not provided 2018-05-31 criteria provided, single submitter clinical testing
OMIM RCV000001134 SCV000021284 pathogenic COACH syndrome 2010-01-01 no assertion criteria provided literature only

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