ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9414A>G (p.Leu3138=) (rs80359807)

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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) RCV000114106 SCV000579002 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 RCV000215620 SCV000278559 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.
Color Health, Inc RCV000215620 SCV001354228 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 RCV001260446 SCV001437443 likely benign not specified 2020-09-23 criteria provided, single submitter clinical testing
Invitae RCV001452638 SCV001656308 likely benign Hereditary breast and ovarian cancer syndrome 2020-09-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114106 SCV000147633 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing

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