ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.4303C>T (p.His1435Tyr)

dbSNP: rs1557582259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV000681468 SCV000808916 pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2017-09-12 criteria provided, single submitter clinical testing

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