ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1696-4A>G (rs143685082)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000342053 SCV000384549 likely benign Retinoblastoma 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000342053 SCV000965344 uncertain significance Retinoblastoma 2018-12-06 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the RB1 gene. It does not directly change the encoded amino acid sequence of the RB1 protein. This variant is present in population databases (rs143685082, ExAC 0.002%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 312290). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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