ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1992A>T (p.Thr664=)

gnomAD frequency: 0.00001  dbSNP: rs755417160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878413 SCV001021315 likely benign Retinoblastoma 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013951 SCV001174597 likely benign Hereditary cancer-predisposing syndrome 2017-11-07 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 RCV000878413 SCV004844714 benign Retinoblastoma 2023-11-02 criteria provided, single submitter clinical testing

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