ClinVar Miner

Submissions for variant NM_000321.2(RB1):c.367A>G (p.Asn123Asp) (rs149800437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525619 SCV000629328 benign Retinoblastoma 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568188 SCV000674704 likely benign Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV000525619 SCV001271620 benign Retinoblastoma 2017-09-20 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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