ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4991T>C (p.Leu1664Pro) (rs80357314)

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Total submissions: 7
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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) RCV000031202 SCV000244377 benign Breast-ovarian cancer, familial 1 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 = 0.00000389
Invitae RCV000758838 SCV000076744 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing
GeneDx RCV000212191 SCV000209982 likely benign not specified 2017-04-05 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.
Ambry Genetics RCV000221221 SCV000278635 benign Hereditary cancer-predisposing syndrome 2015-12-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758838 SCV000887707 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031202 SCV000053802 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031202 SCV000145255 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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