ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3del (p.Met1fs) (rs80359418)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031453 SCV000326953 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574323 SCV000661417 pathogenic Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Sharing Clinical Reports Project (SCRP) RCV000031453 SCV000054058 pathogenic Breast-ovarian cancer, familial 2 2012-01-26 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031453 SCV000146001 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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