ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.107del (p.Ile36fs)

dbSNP: rs1571907430
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Raymond Lab, University of Cambridge RCV000850195 SCV000897732 pathogenic Intellectual disability 2019-02-13 criteria provided, single submitter research
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824156 SCV002073823 likely pathogenic Hypomyelinating leukodystrophy 2 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989597 SCV004806725 uncertain significance Lymphatic malformation 3 2024-03-26 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003945 SCV001161935 pathogenic Dystonic disorder no assertion criteria provided research

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