ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5586C>T (p.His1862=) (rs774127304)

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Total submissions: 6
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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) RCV000495784 SCV000578420 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 RCV000164747 SCV000215421 likely benign Hereditary cancer-predisposing syndrome 2014-06-09 criteria provided, single submitter clinical testing
Invitae RCV000233978 SCV000289832 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000426944 SCV000512324 likely benign not specified 2016-06-10 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.
Color RCV000164747 SCV000911266 likely benign Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000233978 SCV001151322 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing

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