ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.34_39dup (p.Ala13_Ala14insThrAla)

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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 RCV003852538 SCV004663179 uncertain significance Retinoblastoma 2023-06-22 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with RB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.34_39dup, results in the insertion of 2 amino acid(s) of the RB1 protein (p.Thr12_Ala13dup), but otherwise preserves the integrity of the reading frame.

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