ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)

dbSNP: rs764881599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023161 SCV001184993 likely benign Hereditary cancer-predisposing syndrome 2019-01-04 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.
Invitae RCV001059649 SCV001224278 benign Retinoblastoma 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505547 SCV002798765 likely benign Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 2022-05-24 criteria provided, single submitter clinical testing

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