Submissions for variant NM_000465.4(BARD1):c.1152C>T (p.Ser384=)

gnomAD frequency: 0.00012  dbSNP: rs368291318

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164186	SCV000214806	likely benign	Hereditary cancer-predisposing syndrome	2014-08-12	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.
Invitae	RCV001080316	SCV000261179	likely benign	Familial cancer of breast	2023-12-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164186	SCV000537496	likely benign	Hereditary cancer-predisposing syndrome	2015-09-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001281718	SCV000696736	likely benign	not specified	2021-07-31	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001281718	SCV000887579	benign	not specified	2019-12-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080316	SCV001303854	uncertain significance	Familial cancer of breast	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000590620	SCV001945168	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164186	SCV002526986	likely benign	Hereditary cancer-predisposing syndrome	2021-10-08	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001281718	SCV004024859	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Lab. Molecular Oncology, VUB, Free University of Brussels	RCV000678223	SCV000804242	likely benign	Triple-Negative Breast Cancer Finding	2015-02-01	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000590620	SCV001742423	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000590620	SCV001972354	likely benign	not provided		no assertion criteria provided	clinical testing