Submissions for variant NM_007294.4(BRCA1):c.2440C>T (p.Leu814=)

dbSNP: rs786202054

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)	RCV000495751	SCV000578085	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	RCV000164674	SCV000215341	likely benign	Hereditary cancer-predisposing syndrome	2014-08-07	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	RCV000164674	SCV001340808	likely benign	Hereditary cancer-predisposing syndrome	2020-01-15	criteria provided, single submitter	clinical testing
Invitae	RCV002516465	SCV003241151	likely benign	Hereditary breast ovarian cancer syndrome	2023-03-16	criteria provided, single submitter	clinical testing