ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4315G>A (p.Ala1439Thr) (rs80358666)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129972 SCV000184796 likely benign Hereditary cancer-predisposing syndrome 2016-05-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113292 SCV000146405 uncertain significance Breast-ovarian cancer, familial 2 2001-02-16 no assertion criteria provided clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513615 SCV000608680 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
Counsyl RCV000113292 SCV000489383 uncertain significance Breast-ovarian cancer, familial 2 2016-09-27 criteria provided, single submitter clinical testing

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