ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2097+8A>C (rs730881642)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160355 SCV000210861 benign not specified 2014-09-22 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 RCV000232767 SCV000291002 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000410320 SCV000489925 likely benign Fanconi anemia, complementation group J 2016-08-09 criteria provided, single submitter clinical testing
Counsyl RCV000411863 SCV000489926 likely benign Neoplasm of ovary 2016-08-09 criteria provided, single submitter clinical testing
Color RCV000579952 SCV000684183 likely benign Hereditary cancer-predisposing syndrome 2016-10-14 criteria provided, single submitter clinical testing
Mendelics RCV000990004 SCV001140766 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing

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