ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.72G>C (p.Pro24=)

dbSNP: rs1333596916
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531183 SCV001746187 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384870 SCV002674283 likely benign Hereditary cancer-predisposing syndrome 2021-01-07 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.
Invitae RCV003514506 SCV004272159 likely benign Retinoblastoma 2023-10-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003514506 SCV004831335 likely benign Retinoblastoma 2023-06-28 criteria provided, single submitter clinical testing

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