ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.719-17A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003514023 SCV004275664 uncertain significance Retinoblastoma 2022-12-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). This variant has not been reported in the literature in individuals affected with RB1-related conditions. This sequence change falls in intron 7 of the RB1 gene. It does not directly change the encoded amino acid sequence of the RB1 protein.

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