Submissions for variant NM_007300.4(BRCA1):c.4946T>C (p.Met1649Thr) (rs4986854)

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000112415	SCV000244371	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 = 0.00000495. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01399 (Asian), derived from 1000 genomes (2012-04-30).
Invitae	RCV000048683	SCV000076696	benign	Hereditary breast and ovarian cancer syndrome	2018-01-09	criteria provided, single submitter	clinical testing
Counsyl	RCV000112415	SCV000154024	likely benign	Breast-ovarian cancer, familial 1	2014-03-07	criteria provided, single submitter	literature only
Ambry Genetics	RCV000162565	SCV000212978	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV000120263	SCV000219252	benign	not specified	2016-12-29	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories,University of Michigan	RCV000112415	SCV000267716	benign	Breast-ovarian cancer, familial 1	2016-04-21	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000120263	SCV000538434	likely benign	not specified	2016-03-29	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: ExAC: 0.8% (51/6614) Finnish; ClinVar: 6 B/LB
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000120263	SCV000591545	benign	not specified	2016-11-24	criteria provided, single submitter	clinical testing
Color	RCV000162565	SCV000683224	benign	Hereditary cancer-predisposing syndrome	2014-12-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht	RCV000112415	SCV000743386	benign	Breast-ovarian cancer, familial 1	2017-07-28	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000112415	SCV000744606	benign	Breast-ovarian cancer, familial 1	2015-09-21	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000034754	SCV000806963	likely benign	not provided	2017-08-03	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health	RCV000034754	SCV000043155	probably not pathogenic	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Likely benign.
ITMI	RCV000120263	SCV000084415	not provided	not specified	2013-09-19	no assertion provided	reference population
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112415	SCV000145201	uncertain significance	Breast-ovarian cancer, familial 1	2002-05-29	no assertion criteria provided	clinical testing
CSER_CC_NCGL; University of Washington Medical Center	RCV000148381	SCV000190079	likely benign	Neoplasm of the breast	2014-06-01	no assertion criteria provided	research
True Health Diagnostics	RCV000162565	SCV000787906	likely benign	Hereditary cancer-predisposing syndrome	2017-12-01	no assertion criteria provided	clinical testing