ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3966C>T (p.Asn1322=) (rs80358647)

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Total submissions: 6
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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) RCV000113254 SCV000578921 likely benign Breast-ovarian cancer, familial 2 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 RCV000218681 SCV000278560 likely benign Hereditary cancer-predisposing syndrome 2015-09-17 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 RCV000460725 SCV000560424 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV000218681 SCV001344937 likely benign Hereditary cancer-predisposing syndrome 2017-10-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260445 SCV001437442 likely benign not specified 2020-09-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113254 SCV000146349 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing

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