Submissions for variant NM_000465.4(BARD1):c.2082C>T (p.Leu694=)

gnomAD frequency: 0.00018  dbSNP: rs139620052

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000165901	SCV000216656	likely benign	Hereditary cancer-predisposing syndrome	2014-09-26	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	RCV000419050	SCV000512250	benign	not specified	2015-04-10	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	RCV000636008	SCV000757439	benign	Familial cancer of breast	2024-01-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000636008	SCV001298993	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Diagnostics, LLC DBA Color Health	RCV000165901	SCV001350692	likely benign	Hereditary cancer-predisposing syndrome	2017-08-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000165901	SCV002529572	likely benign	Hereditary cancer-predisposing syndrome	2021-11-18	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003975237	SCV004789383	likely benign	BARD1-related condition	2022-02-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).