ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1198C>G (p.Leu400Val)

gnomAD frequency: 0.00001  dbSNP: rs535576919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632945 SCV000754153 likely benign Retinoblastoma 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010249 SCV001170416 likely benign Hereditary cancer-predisposing syndrome 2024-01-05 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.
GeneDx RCV002307568 SCV002601097 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Dayalan_2006_Review)

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