ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.411A>T (p.Glu137Asp) (rs3092902)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000989108 SCV000284626 benign Retinoblastoma 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570544 SCV000664578 likely benign Hereditary cancer-predisposing syndrome 2018-08-27 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
Mendelics RCV000989108 SCV001139307 uncertain significance Retinoblastoma 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000989108 SCV001271623 benign Retinoblastoma 2018-10-09 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285704 SCV001472180 likely benign none provided 2020-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000034596 SCV001772964 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27153395, 15776430, 9311732, 15884040, 26933808, 25742471, 23810757, 27600092, 16546179, 20596833, 7981694, 7795591, 22703879, 17996702, 8364580)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034596 SCV000043463 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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