ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2523G>A (p.Arg841=)

dbSNP: rs773013395
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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) RCV000495367 SCV000578253 likely benign Breast-ovarian cancer, familial, susceptibility to, 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 RCV000164715 SCV000215385 likely benign Hereditary cancer-predisposing syndrome 2014-06-17 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 Diagnostics, LLC DBA Color Health RCV000164715 SCV000683043 likely benign Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing
Invitae RCV001079060 SCV000759413 likely benign Hereditary breast ovarian cancer syndrome 2023-10-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769716 SCV000901136 likely benign Breast and/or ovarian cancer 2022-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000656634 SCV001863601 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656634 SCV000778754 likely benign not provided 2017-12-01 no assertion criteria provided clinical testing

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