ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) (rs45501097)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120388 SCV000150034 benign not specified 2018-02-28 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.
Invitae RCV001084447 SCV000166671 benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000116125 SCV000183881 benign Hereditary cancer-predisposing syndrome 2019-05-07 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Counsyl RCV000409336 SCV000489881 benign Fanconi anemia, complementation group J 2016-07-11 criteria provided, single submitter clinical testing
Counsyl RCV000410488 SCV000489882 benign Neoplasm of ovary 2016-07-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120388 SCV000600893 benign not specified 2017-06-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514890 SCV000610616 likely benign not provided 2017-05-11 criteria provided, single submitter clinical testing
Color RCV000116125 SCV000689260 benign Hereditary cancer-predisposing syndrome 2017-11-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000409336 SCV001283866 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ITMI RCV000120388 SCV000084540 not provided not specified 2013-09-19 no assertion provided reference population

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