ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) (rs55688530)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224107 SCV000883463 benign not provided 2017-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162532 SCV000212932 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000470710 SCV000540967 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077630 SCV000145628 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000049057 SCV000190101 likely benign Hereditary breast and ovarian cancer syndrome 2014-06-01 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224107 SCV000280842 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Color RCV000162532 SCV000683337 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000077630 SCV000221134 benign Breast-ovarian cancer, familial 1 2015-02-13 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120269 SCV000591285 benign not specified 2012-11-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000077630 SCV000733669 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000049057 SCV000297229 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-09-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120269 SCV000232715 benign not specified 2014-07-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077630 SCV000244407 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 = 0.00000000000782. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30).
GeneDx RCV000120269 SCV000167230 benign not specified 2013-10-25 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.
Genetic Services Laboratory, University of Chicago RCV000120269 SCV000246804 likely benign not specified 2015-07-27 criteria provided, single submitter clinical testing
ITMI RCV000120269 SCV000084421 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000049057 SCV000077070 benign Hereditary breast and ovarian cancer syndrome 2018-01-25 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224107 SCV000778776 likely benign not provided 2015-10-07 no assertion criteria provided clinical testing
Pathway Genomics RCV000077630 SCV000189879 likely benign Breast-ovarian cancer, familial 1 2014-07-24 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077630 SCV000109433 benign Breast-ovarian cancer, familial 1 2006-07-03 no assertion criteria provided clinical testing
Vantari Genetics RCV000162532 SCV000267012 likely benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing

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