ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6868T>C (p.Leu2290=) (rs876660341)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494777 SCV000578907 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000214694 SCV000277686 likely benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503554 SCV000592080 likely benign not specified 2012-03-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000503554 SCV000600721 likely benign not specified 2017-03-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759649 SCV000889112 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000759649 SCV001011560 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing

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