ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.1648A>C (p.Asn550His) (rs56012641)

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Total submissions: 21
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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) RCV000031004 SCV000244306 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 = 0.00000000000163
Invitae RCV000167815 SCV000075562 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
Counsyl RCV000031004 SCV000154031 likely benign Breast-ovarian cancer, familial 1 2014-04-07 criteria provided, single submitter literature only
GeneDx RCV000168493 SCV000167243 benign not specified 2014-01-22 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 RCV000162617 SCV000213049 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768647 SCV000219211 likely benign Breast and/or ovarian cancer 2016-06-16 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031004 SCV000267693 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000167815 SCV000297223 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-09-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168493 SCV000333421 likely benign not specified 2015-08-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000168493 SCV000538453 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: 7 B/LB, including expert panel
Fulgent Genetics,Fulgent Genetics RCV000031004 SCV000575710 likely benign Breast-ovarian cancer, familial 1 2015-09-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168493 SCV000591345 benign not specified 2013-05-22 criteria provided, single submitter clinical testing
Color RCV000162617 SCV000682975 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000031004 SCV000746296 uncertain significance Breast-ovarian cancer, familial 1 2017-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000656640 SCV000806899 likely benign not provided 2017-05-16 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031004 SCV000053597 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031004 SCV000144150 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148384 SCV000190082 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031004 SCV000733654 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656640 SCV000778767 likely benign not provided 2017-08-02 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162617 SCV000805228 likely benign Hereditary cancer-predisposing syndrome 2018-04-05 no assertion criteria provided clinical testing

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