ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.-15C>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 RCV003628509 SCV004446825 uncertain significance Retinoblastoma 2024-01-28 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the RB1 gene. It does not change the encoded amino acid sequence of the RB1 protein. This variant is present in population databases (rs780264811, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RB1-related conditions. 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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