ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) (rs267607020)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201757 SCV000256468 pathogenic Joubert syndrome 7 2015-02-23 criteria provided, single submitter research
OMIM RCV000001135 SCV000021285 pathogenic COACH syndrome 2010-01-01 no assertion criteria provided literature only

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