Submissions for variant NM_007294.4(BRCA1):c.3975G>A (p.Arg1325=)

dbSNP: rs761424661

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000494992	SCV000578226	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/).
Ambry Genetics	RCV000566203	SCV000661080	likely benign	Hereditary cancer-predisposing syndrome	2016-09-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758820	SCV000887681	likely benign	not provided	2020-12-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001264475	SCV001442649	likely benign	not specified	2020-10-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001409445	SCV001611467	likely benign	Hereditary breast ovarian cancer syndrome	2024-10-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000758820	SCV001944060	benign	not provided	2015-05-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29020732, 30287823)