Submissions for variant NM_007294.4(BRCA1):c.439T>C (p.Leu147=)

dbSNP: rs794727800

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495782	SCV000578311	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2017-06-29	reviewed by expert panel	curation	Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.04; http://priors.hci.utah.edu/PRIORS/).
Eurofins Ntd Llc (ga)	RCV000513423	SCV000231726	uncertain significance	not provided	2014-09-05	criteria provided, single submitter	clinical testing
Invitae	RCV001080074	SCV000560239	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513423	SCV000608817	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	BRCA1: BP4, BP7
Ambry Genetics	RCV001022420	SCV001184153	likely benign	Hereditary cancer-predisposing syndrome	2018-08-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000513423	SCV001815372	likely benign	not provided	2019-02-26	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493484	SCV004242851	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001022420	SCV004361114	likely benign	Hereditary cancer-predisposing syndrome	2020-06-09	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000513423	SCV001906007	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000513423	SCV001928179	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000513423	SCV001958686	likely benign	not provided		no assertion criteria provided	clinical testing