ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4928T>C (p.Val1643Ala) (rs28897731)

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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 RCV000163029 SCV000213517 likely benign Hereditary cancer-predisposing syndrome 2017-05-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000077341 SCV000146507 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000044524 SCV000586956 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-04-14 no assertion criteria provided clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416148 SCV000493200 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Color RCV000163029 SCV000910874 benign Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000160187 SCV000591932 uncertain significance not specified 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000160187 SCV000210531 likely benign not specified 2017-10-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000044524 SCV000072537 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-23 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077341 SCV000267773 likely benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077341 SCV000109138 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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