ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.593+9A>G (rs80358133)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000031266 SCV000145636 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Color RCV000580719 SCV000683340 likely benign Hereditary cancer-predisposing syndrome 2016-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000031266 SCV000488066 uncertain significance Breast-ovarian cancer, familial 1 2015-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000433193 SCV000512280 likely benign not specified 2016-09-12 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 RCV000531917 SCV000636060 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000433193 SCV000600429 uncertain significance not specified 2016-09-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031266 SCV000053871 likely benign Breast-ovarian cancer, familial 1 2011-03-10 no assertion criteria provided clinical testing

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