ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261602 SCV001438884 likely pathogenic Joubert syndrome 5 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV001261608 SCV001438892 pathogenic Meckel syndrome type 6 criteria provided, single submitter clinical testing

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