Submissions for variant NM_007294.4(BRCA1):c.120C>T (p.Asp40=)

dbSNP: rs1060504580

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001088796	SCV000560282	likely benign	Hereditary breast ovarian cancer syndrome	2022-10-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000827083	SCV000968699	likely benign	not provided	2020-11-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30209399)
Ambry Genetics	RCV001010350	SCV001170532	likely benign	Hereditary cancer-predisposing syndrome	2015-10-19	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	RCV001010350	SCV001347270	likely benign	Hereditary cancer-predisposing syndrome	2018-11-05	criteria provided, single submitter	clinical testing
Brotman Baty Institute, University of Washington	RCV001076998	SCV001242855	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro
Genetic Services Laboratory, University of Chicago	RCV003151073	SCV003839262	likely benign	not specified	2022-07-27	no assertion criteria provided	clinical testing