Submissions for variant NM_007294.4(BRCA1):c.3756G>C (p.Leu1252=)

gnomAD frequency: 0.00001  dbSNP: rs752122039

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000494939	SCV000578266	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	RCV000564040	SCV000665218	likely benign	Hereditary cancer-predisposing syndrome	2015-04-16	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.
Color Diagnostics, LLC DBA Color Health	RCV000564040	SCV000909292	likely benign	Hereditary cancer-predisposing syndrome	2018-02-16	criteria provided, single submitter	clinical testing
Invitae	RCV000931790	SCV001077461	likely benign	Hereditary breast ovarian cancer syndrome	2023-06-17	criteria provided, single submitter	clinical testing