ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter)

dbSNP: rs878853394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225584 SCV000282622 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505159 SCV000598711 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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