ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1072C>T (p.Leu358=)

dbSNP: rs377310179
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Total submissions: 5
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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) RCV000495132 SCV000578192 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 RCV000220240 SCV000274613 likely benign Hereditary cancer-predisposing syndrome 2015-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000827071 SCV000968683 likely benign not provided 2019-11-15 criteria provided, single submitter clinical testing
Invitae RCV002057192 SCV002470395 likely benign Hereditary breast ovarian cancer syndrome 2023-12-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495132 SCV004818375 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-03-23 criteria provided, single submitter clinical testing

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