ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) (rs4986765)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162379 SCV000212689 benign Hereditary cancer-predisposing syndrome 2014-11-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
PreventionGenetics,PreventionGenetics RCV000242120 SCV000314838 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000410880 SCV000404592 benign Fanconi anemia, complementation group J 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000347348 SCV000404593 likely benign Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000410880 SCV000489871 benign Fanconi anemia, complementation group J 2016-06-18 criteria provided, single submitter clinical testing
Counsyl RCV000412411 SCV000489872 benign Neoplasm of ovary 2016-06-18 criteria provided, single submitter clinical testing
Color RCV000162379 SCV000537320 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000242120 SCV000538507 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000410880 SCV000602888 benign Fanconi anemia, complementation group J 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000755226 SCV000633629 benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000242120 SCV001364481 benign not specified 2019-08-13 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Maximiliano Zeballos, Yukihide Momozawa.

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