ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2310T>C (p.Asp770=) (rs148752066)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000124024 SCV000214124 likely benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
Color RCV000124024 SCV000684205 likely benign Hereditary cancer-predisposing syndrome 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000212322 SCV000167433 benign not specified 2014-02-25 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 RCV000467053 SCV000558596 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-11-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212322 SCV000600903 likely benign not specified 2017-05-31 criteria provided, single submitter clinical testing

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