ClinVar Miner

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

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000116125 SCV000183881 benign Hereditary cancer-predisposing syndrome 2016-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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
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
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
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.
ITMI RCV000120388 SCV000084540 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000123348 SCV000166671 benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-29 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

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