ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6939C>A (p.Tyr2313Ter)

dbSNP: rs863225187
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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 RCV000201753 SCV000256382 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Baylor Genetics RCV004567442 SCV005057345 pathogenic Bardet-Biedl syndrome 14 2024-02-20 criteria provided, single submitter clinical testing

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