ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1419C>T (p.Asn473=) (rs777228325)

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Total submissions: 8
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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) RCV000241043 SCV000578426 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 RCV000165155 SCV000215866 likely benign Hereditary cancer-predisposing syndrome 2014-07-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000229396 SCV000289744 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587123 SCV000698864 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Counsyl RCV000241043 SCV000785261 likely benign Breast-ovarian cancer, familial 1 2017-06-20 criteria provided, single submitter clinical testing
Color Health, Inc RCV000165155 SCV000909383 likely benign Hereditary cancer-predisposing syndrome 2018-02-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284533 SCV001470372 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
Department of Medical Genetics, University Hospital of North Norway RCV000241043 SCV000301430 uncertain significance Breast-ovarian cancer, familial 1 2016-05-01 no assertion criteria provided clinical testing

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