ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) (rs80358636)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162737 SCV000213208 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031447 SCV000146333 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761051 SCV000890966 uncertain significance Large Cell/Anaplastic Medulloblastoma 2016-04-27 no assertion criteria provided clinical testing
Color RCV000162737 SCV000902887 benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203660 SCV000257609 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-04-12 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031447 SCV000244443 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000685
GeneDx RCV000044309 SCV000210599 likely benign not specified 2017-11-29 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 RCV000203660 SCV000072322 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031447 SCV000054052 likely benign Breast-ovarian cancer, familial 2 2009-10-12 no assertion criteria provided clinical testing

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