ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.1324G>A (p.Asp442Asn) (rs28897691)

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Total submissions: 13
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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) RCV000112369 SCV000244364 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 = 0.000173
Invitae RCV000048612 SCV000076625 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000123923 SCV000167307 benign not specified 2013-12-13 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 RCV000162986 SCV000213474 benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing
Counsyl RCV000112369 SCV000220947 benign Breast-ovarian cancer, familial 1 2014-12-11 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123923 SCV000591529 benign not specified 2013-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000123923 SCV000602726 benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Color RCV000162986 SCV000683196 likely benign Hereditary cancer-predisposing syndrome 2015-07-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112369 SCV000743391 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112369 SCV000744611 benign Breast-ovarian cancer, familial 1 2017-05-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000123923 SCV000806956 benign not specified 2017-03-31 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112369 SCV000145135 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735456 SCV000863593 benign Breast and/or ovarian cancer 2013-03-28 no assertion criteria provided clinical testing

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