Submissions for variant NM_007294.4(BRCA1):c.3153T>C (p.Thr1051=)

dbSNP: rs1057521053

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495468	SCV000578153	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/).
GeneDx	RCV000433211	SCV000520801	likely benign	not specified	2018-03-07	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	RCV001086444	SCV000560219	likely benign	Hereditary breast ovarian cancer syndrome	2023-10-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563401	SCV000660988	likely benign	Hereditary cancer-predisposing syndrome	2016-01-12	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	RCV000563401	SCV000688422	likely benign	Hereditary cancer-predisposing syndrome	2017-10-23	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758807	SCV000887660	likely benign	not provided	2023-07-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000758807	SCV002822394	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	BRCA1: PM2:Supporting, BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150207	SCV003838240	likely benign	Breast and/or ovarian cancer	2022-02-15	criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000563401	SCV000787900	likely benign	Hereditary cancer-predisposing syndrome	2017-06-23	no assertion criteria provided	clinical testing