ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.211_212AG[4] (p.Arg73fs) (rs587778862)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492118 SCV000580856 pathogenic Hereditary cancer-predisposing syndrome 2015-12-10 criteria provided, single submitter clinical testing
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine RCV000114738 SCV000087395 pathogenic Retinoblastoma 2013-09-16 no assertion criteria provided clinical testing
Invitae RCV000114738 SCV000824167 pathogenic Retinoblastoma 2018-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg73Serfs*36) in the RB1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with retinoblastoma (PMID: 12541220, 15884040). This variant is also known as 350delGA or g.5497delAG in the literature. ClinVar contains an entry for this variant (Variation ID: 126844). Loss-of-function variants in RB1 are known to be pathogenic (PMID: 17096365). For these reasons, this variant has been classified as Pathogenic.

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