ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2489+1G>A (rs764754259)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492539 SCV000580878 pathogenic Hereditary cancer-predisposing syndrome 2012-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000523250 SCV000617264 pathogenic not provided 2017-10-10 criteria provided, single submitter clinical testing This apparently mosaic variant is denoted and consists of a G>A nucleotide substitution at the +1position of intron 23 of the RB1 gene. This variant destroys a canonical splice donor site and is predicted to causeabnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay orto an abnormal protein product. This variant has been reported in at least two patients with retinoblastoma (Barbosa2013, Ottaviani 2013). Based on the current evidence, we consider this variant to be pathogenic

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