ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5723T>C (p.Leu1908Pro) (rs80358797)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220622 SCV000277026 likely benign Hereditary cancer-predisposing syndrome 2018-01-05 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Counsyl RCV000031572 SCV000488491 uncertain significance Breast-ovarian cancer, familial 2 2016-04-14 criteria provided, single submitter clinical testing
GeneDx RCV001689581 SCV000512371 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22711857)
Color Health, Inc RCV000220622 SCV000911110 benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV001486114 SCV001690564 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-29 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV001642389 SCV001854853 likely benign Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000031572 SCV000054178 benign Breast-ovarian cancer, familial 2 2012-02-02 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031572 SCV000146678 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV001689581 SCV001906373 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001689581 SCV001957773 likely benign not provided no assertion criteria provided clinical testing

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