ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.81-13C>G (rs56328013)

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Total submissions: 10
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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) RCV000031282 SCV000244412 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000301. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.0122 (African), derived from 1000 genomes (2012-04-30).
Counsyl RCV000031282 SCV000154032 likely benign Breast-ovarian cancer, familial 1 2014-04-05 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723932 SCV000202276 uncertain significance not provided 2014-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000152870 SCV000209900 likely benign not specified 2018-02-27 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.
Invitae RCV000723932 SCV000261618 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000474249 SCV000540979 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Color RCV000579728 SCV000683364 benign Hereditary cancer-predisposing syndrome 2015-10-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152870 SCV000806984 benign not specified 2016-10-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031282 SCV000053887 benign Breast-ovarian cancer, familial 1 2008-07-29 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031282 SCV000144221 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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