ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1470A>G (p.Pro490=) (rs775032066)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494906 SCV000578186 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000164166 SCV000214784 likely benign Hereditary cancer-predisposing syndrome 2014-07-01 criteria provided, single submitter clinical testing
Invitae RCV000206699 SCV000259632 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507935 SCV000600252 likely benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Color RCV000164166 SCV000682963 likely benign Hereditary cancer-predisposing syndrome 2016-10-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679682 SCV000806896 likely benign not provided 2017-02-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679682 SCV000887625 likely benign not provided 2017-03-17 criteria provided, single submitter clinical testing

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