ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.3535C>T (p.Arg1179Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Royal Medical Services, Bahrain Defence Force Hospital RCV005232610 SCV005689468 uncertain significance Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart criteria provided, single submitter clinical testing The RERE variant c.3535C>T p.(Arg1179*) creates a premature stop codon. It is classified as variant of uncertain significance (class 3) according to the recommendations of CENTOGENE and ACMG

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