Submissions for variant NM_007294.4(BRCA1):c.837T>C (p.His279=)

gnomAD frequency: 0.00001  dbSNP: rs775477245

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495040	SCV000578424	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 0.02; http://priors.hci.utah.edu/PRIORS/).
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University	RCV000240701	SCV000265875	uncertain significance	Breast neoplasm	2015-11-01	criteria provided, single submitter	research
Ambry Genetics	RCV000223201	SCV000274044	likely benign	Hereditary cancer-predisposing syndrome	2015-02-06	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.
Invitae	RCV000461630	SCV000560267	likely benign	Hereditary breast ovarian cancer syndrome	2023-11-25	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001636726	SCV000600441	likely benign	not provided	2023-08-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000506568	SCV000916811	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000223201	SCV001352919	likely benign	Hereditary cancer-predisposing syndrome	2017-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001636726	SCV001851092	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30702160)