ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.21C>T (p.Arg7=) (rs149402012)

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Total submissions: 12
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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) RCV000169370 SCV000577993 benign Breast-ovarian cancer, familial 1 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 0.0053 (African), derived from ExAC (2014-12-17).
GeneDx RCV000168476 SCV000167223 benign not specified 2014-01-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168476 SCV000202278 benign not specified 2014-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163211 SCV000213734 likely benign Hereditary cancer-predisposing syndrome 2014-09-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768582 SCV000219179 benign Breast and/or ovarian cancer 2017-01-18 criteria provided, single submitter clinical testing
Counsyl RCV000169370 SCV000220746 likely benign Breast-ovarian cancer, familial 1 2014-09-26 criteria provided, single submitter literature only
Invitae RCV000656648 SCV000252813 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000458876 SCV000540977 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168476 SCV000593665 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing
Color RCV000163211 SCV000683019 benign Hereditary cancer-predisposing syndrome 2015-12-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656648 SCV000885078 benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656648 SCV000778782 likely benign not provided 2017-11-16 no assertion criteria provided clinical testing

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