ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.595C>T (p.Leu199=) (rs144969738)

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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 RCV000215945 SCV000274260 likely benign Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001082446 SCV000291053 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000409950 SCV000490079 likely benign Fanconi anemia, complementation group J 2016-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000411438 SCV000490080 likely benign Neoplasm of ovary 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000601018 SCV000726980 likely benign not specified 2018-01-19 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000215945 SCV000747817 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000230450 SCV001134034 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing
Color RCV000215945 SCV001358853 likely benign Hereditary cancer-predisposing syndrome 2016-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000601018 SCV001361205 likely benign not specified 2019-06-20 criteria provided, single submitter clinical testing

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