ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) (rs142509759)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000034595 SCV000203390 uncertain significance not provided 2014-05-06 criteria provided, single submitter clinical testing
Invitae RCV001085189 SCV000284618 benign Retinoblastoma 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566730 SCV000674701 likely benign Hereditary cancer-predisposing syndrome 2018-05-14 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Other data supporting benign classification;In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034595 SCV001245821 uncertain significance not provided 2019-09-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085189 SCV001270240 likely benign Retinoblastoma 2018-11-06 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034595 SCV000043465 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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