ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2490-5G>A

dbSNP: rs1593544633
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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 RCV001015687 SCV001176548 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-10 criteria provided, single submitter clinical testing The c.2490-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 24 in the RB1 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002068917 SCV002447956 likely benign Retinoblastoma 2023-06-27 criteria provided, single submitter clinical testing

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