ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) (rs4988347)

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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 RCV000116162 SCV000172953 benign Hereditary cancer-predisposing syndrome 2017-12-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: No disease association in appropriately sized case-control study(ies)
Color RCV000116162 SCV000910543 likely benign Hereditary cancer-predisposing syndrome 2014-12-29 criteria provided, single submitter clinical testing
Counsyl RCV000410203 SCV000489853 likely benign Fanconi anemia, complementation group J 2016-07-05 criteria provided, single submitter clinical testing
Counsyl RCV000411259 SCV000489854 likely benign Neoplasm of ovary 2016-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000120407 SCV000150071 benign not specified 2017-12-21 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 RCV000120407 SCV000084559 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000589840 SCV000699730 benign not provided 2016-02-08 criteria provided, single submitter clinical testing
Invitae RCV000123361 SCV000166684 benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589840 SCV000807154 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120407 SCV000600925 benign not specified 2016-08-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589840 SCV000889221 benign not provided 2016-08-19 criteria provided, single submitter clinical testing

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