ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7976+23C>T

gnomAD frequency: 0.00018  dbSNP: rs183623188
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113848 SCV001161617 benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 2.09E-09
Labcorp Genetics (formerly Invitae), Labcorp RCV000045364 SCV000073377 benign Hereditary breast ovarian cancer syndrome 2023-07-17 criteria provided, single submitter clinical testing
Counsyl RCV000113848 SCV000220692 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-09-11 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000500547 SCV000592164 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing
Mendelics RCV000113848 SCV001139198 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000500547 SCV002551668 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001795041 SCV005236533 benign not provided criteria provided, single submitter not provided
Breast Cancer Information Core (BIC) (BRCA2) RCV000113848 SCV000147234 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-12-17 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000500547 SCV002034151 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001795041 SCV002034320 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001795041 SCV002037361 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000500547 SCV002038075 benign not specified no assertion criteria provided clinical testing

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