Submissions for variant NM_007294.4(BRCA1):c.123C>T (p.His41=)

dbSNP: rs786202211

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000494994	SCV000578349	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	RCV000164921	SCV000215609	likely benign	Hereditary cancer-predisposing syndrome	2014-06-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232043	SCV000289739	likely benign	Hereditary breast ovarian cancer syndrome	2024-11-13	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000494994	SCV004827383	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-08-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004705000	SCV005212832	likely benign	not provided		criteria provided, single submitter	not provided
Brotman Baty Institute, University of Washington	RCV000494994	SCV001237890	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro