ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4097-10G>A (rs80358057)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159886 SCV000209968 benign not specified 2014-09-17 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724122 SCV000225366 uncertain significance not provided 2014-07-09 criteria provided, single submitter clinical testing
Invitae RCV000234143 SCV000289792 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-03 criteria provided, single submitter clinical testing
Counsyl RCV000112252 SCV000489057 likely benign Breast-ovarian cancer, familial 1 2016-08-09 criteria provided, single submitter clinical testing
Color RCV000580105 SCV000683150 likely benign Hereditary cancer-predisposing syndrome 2015-07-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724122 SCV000887686 likely benign not provided 2018-04-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112252 SCV000144973 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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