ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro) (rs80357314)

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Total submissions: 9
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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 RCV001081025 SCV000076744 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-02 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 Does not segregate with disease in family study (genes with complete penetrance);In silico models in agreement (benign)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758838 SCV000887707 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing
Color Health, Inc RCV000221221 SCV001358819 likely benign Hereditary cancer-predisposing syndrome 2019-04-02 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
Brotman Baty Institute,University of Washington RCV000031202 SCV001243345 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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