ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.273T>C (p.Tyr91=)

gnomAD frequency: 0.00001  dbSNP: rs750136284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549050 SCV000629321 likely benign Retinoblastoma 2023-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016457 SCV001177415 likely benign Hereditary cancer-predisposing syndrome 2017-11-08 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 RCV002281103 SCV002569638 uncertain significance not provided 2022-02-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV000549050 SCV004847083 likely benign Retinoblastoma 2023-12-13 criteria provided, single submitter clinical testing

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