ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2097+7G>A (rs4988352)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079247 SCV000166676 benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000124038 SCV000167447 benign not specified 2013-10-22 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.
Illumina Clinical Services Laboratory,Illumina RCV000261975 SCV000404600 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000412184 SCV000404601 likely benign Fanconi anemia, complementation group J 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Counsyl RCV000412184 SCV000489809 likely benign Fanconi anemia, complementation group J 2016-06-03 criteria provided, single submitter clinical testing
Counsyl RCV000410211 SCV000489810 likely benign Neoplasm of ovary 2016-06-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000124038 SCV000600897 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
Color RCV000579602 SCV000684182 likely benign Hereditary cancer-predisposing syndrome 2015-03-18 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000579602 SCV000803168 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000124038 SCV000807126 benign not specified 2017-05-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124038 SCV000859954 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing
Mendelics RCV000990005 SCV001140767 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000123353 SCV001151387 likely benign not provided 2016-05-01 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000579602 SCV000805251 likely benign Hereditary cancer-predisposing syndrome 2018-06-18 no assertion criteria provided clinical testing

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