ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.312T>G (p.Thr104=) (rs769190318)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163083 SCV000213586 likely benign Hereditary cancer-predisposing syndrome 2015-02-05 criteria provided, single submitter clinical testing
Color RCV000163083 SCV000537470 likely benign Hereditary cancer-predisposing syndrome 2015-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000409311 SCV000490067 likely benign Fanconi anemia, complementation group J 2016-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000410437 SCV000490068 likely benign Neoplasm of ovary 2016-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000420822 SCV000522955 likely benign not specified 2017-03-14 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.
Integrated Genetics/Laboratory Corporation of America RCV000587561 SCV000699714 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV000458991 SCV000558549 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-10-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000420822 SCV000600913 likely benign not specified 2016-09-22 criteria provided, single submitter clinical testing

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