ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) (rs267606719)

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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 RCV000201631 SCV000256381 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000201631 SCV001438885 likely pathogenic Joubert syndrome 5 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261609 SCV001438893 pathogenic Meckel syndrome type 6 criteria provided, single submitter clinical testing
OMIM RCV000001410 SCV000021560 pathogenic Bardet-Biedl syndrome 14 2008-04-01 no assertion criteria provided literature only

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