Submissions for variant NM_000465.4(BARD1):c.1194A>G (p.Thr398=)

gnomAD frequency: 0.00002  dbSNP: rs781482219

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166498	SCV000217297	likely benign	Hereditary cancer-predisposing syndrome	2014-10-23	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.
GeneDx	RCV000463783	SCV000529393	likely benign	not provided	2018-05-04	criteria provided, single submitter	clinical testing
Invitae	RCV001081642	SCV000557496	likely benign	Familial cancer of breast	2024-02-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166498	SCV000688101	likely benign	Hereditary cancer-predisposing syndrome	2017-07-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000463783	SCV001153296	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	BARD1: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000463783	SCV001470140	likely benign	not provided	2023-09-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166498	SCV002526992	likely benign	Hereditary cancer-predisposing syndrome	2021-03-29	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320587	SCV004024858	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing