ClinVar Miner

Submissions for variant NM_018191.4(RCBTB1):c.1172+1G>A

dbSNP: rs869312819
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Molecular Genetics, Department of Medical Research, Taipei Veterans General Hospital RCV000210240 SCV000266324 likely pathogenic Exudative retinopathy; Familial exudative vitreoretinopathy no assertion criteria provided research

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