ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1022G>T (p.Cys341Phe) (rs80358403)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164099 SCV000214711 likely benign Hereditary cancer-predisposing syndrome 2017-06-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034425 SCV000043194 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000083084 SCV000145807 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing
GeneDx RCV000611993 SCV000725811 likely benign not specified 2017-12-12 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 RCV000043729 SCV000071742 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083084 SCV000115158 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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