ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.207T>C (p.His69=)

dbSNP: rs759594127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570326 SCV000674727 likely benign Hereditary cancer-predisposing syndrome 2017-03-30 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 RCV000866936 SCV001008106 likely benign Retinoblastoma 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726251 SCV001961410 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing RB1: BP4, BP7
Sema4, Sema4 RCV000570326 SCV002530818 likely benign Hereditary cancer-predisposing syndrome 2021-09-18 criteria provided, single submitter curation

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