ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.807G>A (p.Leu269=) (rs149867679)

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Total submissions: 9
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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) RCV000409357 SCV000578001 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 0.0012 (African), derived from ExAC (2014-12-17).
GeneDx RCV000123890 SCV000167236 benign not specified 2014-02-21 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.
Ambry Genetics RCV000162520 SCV000212914 likely benign Hereditary cancer-predisposing syndrome 2014-06-03 criteria provided, single submitter clinical testing
Invitae RCV000758848 SCV000252823 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Counsyl RCV000409357 SCV000488501 likely benign Breast-ovarian cancer, familial 1 2016-04-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000463712 SCV000540983 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000123890 SCV000591302 benign not specified 2012-11-07 criteria provided, single submitter clinical testing
Color RCV000162520 SCV000688665 likely benign Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758848 SCV000887735 likely benign not provided 2017-11-16 criteria provided, single submitter clinical testing

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