ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.2325+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337752 SCV004048002 likely pathogenic Retinoblastoma criteria provided, single submitter clinical testing The splice site variant c.2325+2T>G in RB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2325+2T>G variant is novel in gnomAD Exomes and 1000 Genomes. The variant affects an invariant splice nucleotide and is expected to cause loss of function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic .

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