ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5718_5719CT[1] (p.Asn1906_Ser1907insTer) (rs80359530)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241138 SCV000300921 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241138 SCV000327269 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Genologica Medica RCV000241138 SCV000577959 pathogenic Breast-ovarian cancer, familial 2 2017-01-01 criteria provided, single submitter clinical testing
Mendelics RCV000709319 SCV000838819 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000773267 SCV000906921 pathogenic Hereditary cancer-predisposing syndrome 2017-03-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000241138 SCV000146676 pathogenic Breast-ovarian cancer, familial 2 2011-03-02 no assertion criteria provided clinical testing

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