ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe)

gnomAD frequency: 0.00208  dbSNP: rs11571656
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500420 SCV000593710 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566132 SCV000661149 likely benign Hereditary cancer-predisposing syndrome 2018-06-22 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.
Color Diagnostics, LLC DBA Color Health RCV000566132 SCV000911046 benign Hereditary cancer-predisposing syndrome 2015-09-23 criteria provided, single submitter clinical testing
Invitae RCV000917594 SCV001062879 benign Hereditary breast ovarian cancer syndrome 2023-05-04 criteria provided, single submitter clinical testing
Mendelics RCV000989018 SCV001139049 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170461 SCV001333041 likely benign Breast and/or ovarian cancer 2021-06-29 criteria provided, single submitter clinical testing
Genetics Program, Instituto Nacional de Cancer RCV000917594 SCV002515261 likely benign Hereditary breast ovarian cancer syndrome 2021-11-01 criteria provided, single submitter research
Sema4, Sema4 RCV000566132 SCV002533745 benign Hereditary cancer-predisposing syndrome 2020-11-28 criteria provided, single submitter curation
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000917594 SCV002819202 benign Hereditary breast ovarian cancer syndrome 2022-09-27 criteria provided, single submitter clinical testing

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