ClinVar Miner

Submissions for variant NM_018191.4(RCBTB1):c.919G>A (p.Val307Met)

gnomAD frequency: 0.00002  dbSNP: rs368217569
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent, University of Ghent RCV000239609 SCV000292417 likely pathogenic Retinitis pigmentosa no assertion criteria provided research
OMIM RCV000258120 SCV000328262 pathogenic RCBTB1-related retinopathy 2016-11-01 no assertion criteria provided literature only

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