ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.52G>T (p.Ala18Ser) (rs528218090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226647 SCV000284629 benign Retinoblastoma 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568995 SCV000674713 benign Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification

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