ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.612C>G (p.Ser204=) (rs587780832)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776533 SCV000912129 likely benign Hereditary cancer-predisposing syndrome 2018-02-12 criteria provided, single submitter clinical testing
Counsyl RCV000410021 SCV000489959 likely benign Fanconi anemia, complementation group J 2016-08-24 criteria provided, single submitter clinical testing
Counsyl RCV000411574 SCV000489960 likely benign Neoplasm of ovary 2016-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000603905 SCV000730995 likely benign not specified 2018-01-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000334659 SCV000404613 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395957 SCV000404614 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000123362 SCV000166685 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-06-20 criteria provided, single submitter clinical testing

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