ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.920C>T (p.Thr307Ile) (rs183898408)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492127 SCV000580793 likely benign Hereditary cancer-predisposing syndrome 2018-04-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Co-occurence with mutation in same gene (phase unknown),Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
GeneDx RCV000121926 SCV000729718 likely benign not specified 2017-07-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000121926 SCV000086131 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000230187 SCV000284633 benign Retinoblastoma 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121926 SCV000540158 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency too high for disease; ExAC: 0.6% (51/8986) South Asian, 0.2% European
PreventionGenetics RCV000121926 SCV000303589 benign not specified criteria provided, single submitter clinical testing

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