ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.850A>G (p.Asn284Asp)

gnomAD frequency: 0.00002  dbSNP: rs761609284
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541240 SCV000629349 likely benign Retinoblastoma 2024-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763900 SCV000894836 uncertain significance Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017932 SCV001179099 likely benign Hereditary cancer-predisposing syndrome 2021-12-29 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.
Sema4, Sema4 RCV001017932 SCV002530866 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-26 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000541240 SCV004825623 likely benign Retinoblastoma 2024-02-05 criteria provided, single submitter clinical testing

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