ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4209C>T (p.Asn1403=) (rs786201224)

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Total submissions: 7
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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) RCV000494921 SCV000578452 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000163120 SCV000213632 likely benign Hereditary cancer-predisposing syndrome 2015-03-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724684 SCV000225645 uncertain significance not provided 2015-03-26 criteria provided, single submitter clinical testing
GeneDx RCV000222744 SCV000279600 likely benign not specified 2017-08-07 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 RCV000724684 SCV000289796 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Color RCV000163120 SCV000688479 likely benign Hereditary cancer-predisposing syndrome 2017-09-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724684 SCV000888910 likely benign not provided 2017-11-22 criteria provided, single submitter clinical testing

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