ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1152C>T (p.Ser384=) (rs368291318)

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Total submissions: 9
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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 2020-12-06 criteria provided, single submitter clinical testing
Color Health, Inc 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 Clinical Services Laboratory,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
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

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