ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555326 SCV000652860 likely benign Joubert syndrome 20; Meckel syndrome, type 11 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001712516 SCV000721949 likely benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821602 SCV002069160 uncertain significance not specified 2018-04-18 criteria provided, single submitter clinical testing

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