ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.420T>C (p.Ser140=) (rs730881448)

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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) RCV000495624 SCV000578265 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/).
GeneDx RCV000159860 SCV000209907 benign not specified 2014-09-15 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.
Invitae RCV000464663 SCV000560250 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000159860 SCV000593664 likely benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568214 SCV000665422 likely benign Hereditary cancer-predisposing syndrome 2017-04-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000568214 SCV000683162 likely benign Hereditary cancer-predisposing syndrome 2017-06-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000159860 SCV000699120 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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