ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8487+3A>G (rs81002806)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502951 SCV000592200 likely pathogenic Hereditary breast and ovarian cancer syndrome 2014-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571631 SCV000668580 likely pathogenic Hereditary cancer-predisposing syndrome 2019-10-11 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Functionally-validated splicing mutation;Other strong data supporting pathogenic classification
Color RCV000571631 SCV000903529 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985604 SCV001133937 likely pathogenic not provided 2018-12-11 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/251060 chr). Found in at least one symptomatic patient. Splicing predictions are inconclusive. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Genomic Medicine Lab, University of California San Francisco RCV001007900 SCV001167606 likely pathogenic Cerebral palsy; Hearing impairment; Neurodevelopmental delay 2019-01-10 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113945 SCV000147378 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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