ClinVar Miner

Submissions for variant NM_017662.5(TRPM6):c.2920-806_3404-1965del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504942 SCV000599228 likely pathogenic Abnormality of the eye no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003860 SCV001162314 likely pathogenic Rod-cone dystrophy; Hypomagnesemia no assertion criteria provided research

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