ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) (rs4988345)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082598 SCV000166683 benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000120405 SCV000167436 benign not specified 2013-12-02 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 RCV000129172 SCV000183905 benign Hereditary cancer-predisposing syndrome 2014-06-18 criteria provided, single submitter clinical testing Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene;No disease association in appropriately sized case-control study(ies)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120405 SCV000231807 likely benign not specified 2015-06-02 criteria provided, single submitter clinical testing
Counsyl RCV000410168 SCV000489813 likely benign Fanconi anemia, complementation group J 2016-06-08 criteria provided, single submitter clinical testing
Counsyl RCV000411236 SCV000489814 likely benign Neoplasm of ovary 2016-06-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512967 SCV000608830 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Color RCV000129172 SCV000684285 likely benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120405 SCV000807152 benign not specified 2017-03-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000512967 SCV000889219 benign not provided 2019-05-24 criteria provided, single submitter clinical testing
Mendelics RCV000990031 SCV001140795 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000410168 SCV001159084 likely benign Fanconi anemia, complementation group J 2018-08-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000410168 SCV001287320 uncertain significance Fanconi anemia, complementation group J 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000990031 SCV001428902 uncertain significance Familial cancer of breast 2018-04-18 criteria provided, single submitter clinical testing
ITMI RCV000120405 SCV000084557 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000129172 SCV000787971 likely benign Hereditary cancer-predisposing syndrome 2017-10-31 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.