ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2127G>C (p.Leu709=) (rs554040246)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164090 SCV000214701 likely benign Hereditary cancer-predisposing syndrome 2014-09-11 criteria provided, single submitter clinical testing
Color RCV000164090 SCV000683468 likely benign Hereditary cancer-predisposing syndrome 2016-05-29 criteria provided, single submitter clinical testing
Counsyl RCV000495711 SCV000786148 benign Breast-ovarian cancer, familial 2 2018-03-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501646 SCV000591790 likely benign not specified 2014-12-01 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495711 SCV000578025 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0013 (East Asian), derived from ExAC (2014-12-17).
Invitae RCV000195970 SCV000252605 benign Hereditary breast and ovarian cancer syndrome 2017-05-08 criteria provided, single submitter clinical testing
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240769 SCV000265951 uncertain significance Neoplasm of the breast 2015-11-01 criteria provided, single submitter research

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