ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) (rs372190684)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000114194 SCV000147747 uncertain significance Meckel-Gruber syndrome 2013-12-24 criteria provided, single submitter clinical testing
Invitae RCV000636999 SCV000758447 likely benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2020-09-21 criteria provided, single submitter clinical testing

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