ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1176A>G (p.Leu392=) (rs550092661)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166245 SCV000217025 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing
Color RCV000166245 SCV000684116 likely benign Hereditary cancer-predisposing syndrome 2016-06-20 criteria provided, single submitter clinical testing
GeneDx RCV000425905 SCV000530693 likely benign not specified 2016-08-05 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 RCV000539458 SCV000633537 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-05-01 criteria provided, single submitter clinical testing

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