ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1833G>A (p.Leu611=)

dbSNP: rs786201548
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Total submissions: 4
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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) RCV000495424 SCV000578073 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 RCV000163854 SCV000214440 likely benign Hereditary cancer-predisposing syndrome 2023-09-06 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 RCV000163854 SCV000682990 likely benign Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing
Invitae RCV001463619 SCV001667566 likely benign Hereditary breast ovarian cancer syndrome 2021-10-27 criteria provided, single submitter clinical testing

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