Submissions for variant NM_007294.4(BRCA1):c.217C>T (p.Leu73=)

dbSNP: rs786201203

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495668	SCV000578285	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	RCV000163074	SCV000213573	likely benign	Hereditary cancer-predisposing syndrome	2014-09-26	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	RCV000557550	SCV000635834	likely benign	Hereditary breast ovarian cancer syndrome	2023-10-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163074	SCV001339966	likely benign	Hereditary cancer-predisposing syndrome	2019-05-15	criteria provided, single submitter	clinical testing
Brotman Baty Institute, University of Washington	RCV000495668	SCV001238105	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro