Submissions for variant NM_007294.3(BRCA1):c.5274A>G (p.Arg1758=) (rs758739620)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495325	SCV000578356	likely benign	Breast-ovarian cancer, familial 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	RCV000219833	SCV000277032	likely benign	Hereditary cancer-predisposing syndrome	2015-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000438514	SCV000512317	likely benign	not specified	2017-11-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000474379	SCV000560237	likely benign	Hereditary breast and ovarian cancer syndrome	2017-07-19	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000438514	SCV000591602	likely benign	not specified	2015-11-20	criteria provided, single submitter	clinical testing
Color	RCV000219833	SCV000683278	likely benign	Hereditary cancer-predisposing syndrome	2016-07-12	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV000769709	SCV000901128	likely benign	Breast and/or ovarian cancer	2017-05-04	criteria provided, single submitter	clinical testing