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

Total submissions: 21

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