ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4676-8C>G (rs80358021)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234080 SCV000289808 likely benign Hereditary breast and ovarian cancer syndrome 2016-03-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501584 SCV000591535 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing
Color RCV000580027 SCV000683204 likely benign Hereditary cancer-predisposing syndrome 2015-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000501584 SCV000729433 benign not specified 2015-07-23 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.
Counsyl RCV000112383 SCV000786117 uncertain significance Breast-ovarian cancer, familial 1 2018-02-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112383 SCV000145156 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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