ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.2463A>G (p.Thr821=) (rs370088029)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000399287 SCV000384556 likely benign Retinoblastoma 2017-04-28 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.
Ambry Genetics RCV000561473 SCV000674717 likely benign Hereditary cancer-predisposing syndrome 2017-07-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000399287 SCV000754190 likely benign Retinoblastoma 2019-12-31 criteria provided, single submitter clinical testing

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