ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.548-3del

dbSNP: rs398122353
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166153 SCV000216926 likely benign Hereditary cancer-predisposing syndrome 2017-02-09 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 RCV000550738 SCV000636047 benign Hereditary breast ovarian cancer syndrome 2023-12-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166153 SCV000683326 likely benign Hereditary cancer-predisposing syndrome 2017-05-07 criteria provided, single submitter clinical testing
GeneDx RCV001582576 SCV001821151 likely benign not provided 2018-10-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30702160, 23451180, 10340909, 16267036, 21769658, 23893897, 20104584, 7894493)
Sema4, Sema4 RCV000166153 SCV002537863 likely benign Hereditary cancer-predisposing syndrome 2021-07-18 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267849 SCV002551051 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001582576 SCV004219463 likely benign not provided 2023-08-17 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112736 SCV000145620 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2004-02-20 no assertion criteria provided clinical testing

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