ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.348T>C (p.His116=)

gnomAD frequency: 0.00039  dbSNP: rs139934362
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212112 SCV000209816 benign not specified 2014-07-07 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.
Ambry Genetics RCV000159793 SCV000214236 likely benign Hereditary cancer-predisposing syndrome 2014-12-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085460 SCV000259628 benign Familial cancer of breast 2024-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000159793 SCV000682783 likely benign Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477570 SCV000887592 benign not provided 2023-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000212112 SCV001437366 likely benign not specified 2020-09-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212112 SCV002067948 likely benign not specified 2019-07-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000159793 SCV002529614 likely benign Hereditary cancer-predisposing syndrome 2020-12-10 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV001085460 SCV005405367 benign Familial cancer of breast 2024-07-19 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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