ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3306T>C (p.Asn1102=)

gnomAD frequency: 0.00001  dbSNP: rs876658664
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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) RCV000495749 SCV000578171 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 RCV000223140 SCV000274210 likely benign Hereditary cancer-predisposing syndrome 2015-03-05 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 RCV000226169 SCV000289776 likely benign Hereditary breast ovarian cancer syndrome 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001651081 SCV001862381 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001651081 SCV004219349 likely benign not provided 2022-10-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000223140 SCV004360235 likely benign Hereditary cancer-predisposing syndrome 2021-12-30 criteria provided, single submitter clinical testing

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