ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.34_42del (p.9TAA[1])

dbSNP: rs759465865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472900 SCV000551814 likely benign Retinoblastoma 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020205 SCV001181653 likely benign Hereditary cancer-predisposing syndrome 2021-04-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000472900 SCV004831461 uncertain significance Retinoblastoma 2023-06-26 criteria provided, single submitter clinical testing This variant is a 3 amino acid deletion located at positions 12-14 in the RB1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RB1-related disorders in the literature. This variant has been identified in 8/105152 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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