ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.297C>T (p.Asp99=) (rs201617644)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163407 SCV000213950 likely benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Color RCV000163407 SCV000684239 likely benign Hereditary cancer-predisposing syndrome 2016-12-13 criteria provided, single submitter clinical testing
Counsyl RCV000410445 SCV000489965 likely benign Fanconi anemia, complementation group J 2016-08-29 criteria provided, single submitter clinical testing
Counsyl RCV000411657 SCV000489966 likely benign Neoplasm of ovary 2016-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000435452 SCV000512409 likely benign not specified 2018-01-03 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 RCV000204492 SCV000259679 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758994 SCV000887994 benign not provided 2018-08-05 criteria provided, single submitter clinical testing

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