ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1898C>T (p.Thr633Ile)

gnomAD frequency: 0.00002  dbSNP: rs587778641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632941 SCV000754149 benign Retinoblastoma 2023-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013545 SCV001174148 likely benign Hereditary cancer-predisposing syndrome 2023-02-28 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 RCV000632941 SCV004844709 likely benign Retinoblastoma 2024-01-11 criteria provided, single submitter clinical testing
ITMI RCV000121921 SCV000086126 not provided not specified 2013-09-19 no assertion provided reference population

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