ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7928C>G (p.Ala2643Gly) (rs80359018)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045344 SCV000073357 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129050 SCV000183745 likely benign Hereditary cancer-predisposing syndrome 2016-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Intact protein function observed in appropriate functional assay(s),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Counsyl RCV000077416 SCV000489700 uncertain significance Breast-ovarian cancer, familial 2 2016-11-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501725 SCV000592159 uncertain significance not specified 2015-09-11 criteria provided, single submitter clinical testing
Color RCV000129050 SCV000911247 likely benign Hereditary cancer-predisposing syndrome 2018-01-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077416 SCV000109214 likely benign Breast-ovarian cancer, familial 2 2013-02-04 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077416 SCV000147217 uncertain significance Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing

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