ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.981A>G (p.Thr327=) (rs1800063)

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Total submissions: 14
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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) RCV000111521 SCV000577997 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 0.0021 (Admixed American/Latino), derived from ExAC (2014-12-17).
Invitae RCV000049210 SCV000077223 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000111521 SCV000154013 likely benign Breast-ovarian cancer, familial 1 2014-01-24 criteria provided, single submitter literature only
Ambry Genetics RCV000162537 SCV000212938 likely benign Hereditary cancer-predisposing syndrome 2014-06-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000376504 SCV000219202 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000376504 SCV000333832 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000376504 SCV000586876 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000376504 SCV000591310 benign not specified 2012-09-06 criteria provided, single submitter clinical testing
Color RCV000162537 SCV000683380 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000376504 SCV000806988 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Mendelics RCV000111521 SCV001140615 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111521 SCV000143971 uncertain significance Breast-ovarian cancer, familial 1 2011-07-08 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111521 SCV000189351 benign Breast-ovarian cancer, familial 1 2011-03-02 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162537 SCV000886670 likely benign Hereditary cancer-predisposing syndrome 2018-09-28 no assertion criteria provided clinical testing

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