ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1129A>T (p.Thr377Ser)

gnomAD frequency: 0.00080  dbSNP: rs146897002
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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 RCV000989115 SCV000284608 benign Retinoblastoma 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575152 SCV000674714 likely benign Hereditary cancer-predisposing syndrome 2018-06-07 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.
Mendelics RCV000989115 SCV001139314 likely benign Retinoblastoma 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001557297 SCV001779034 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28780672, 26332594, 14769601)
Sema4, Sema4 RCV000575152 SCV002528283 benign Hereditary cancer-predisposing syndrome 2021-01-04 criteria provided, single submitter curation

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