ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5274A>G (p.Arg1758=) (rs758739620)

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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) RCV000495325 SCV000578356 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 RCV000219833 SCV000277032 likely benign Hereditary cancer-predisposing syndrome 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000438514 SCV000512317 likely benign not specified 2017-11-15 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 RCV000474379 SCV000560237 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000438514 SCV000591602 likely benign not specified 2015-11-20 criteria provided, single submitter clinical testing
Color RCV000219833 SCV000683278 likely benign Hereditary cancer-predisposing syndrome 2016-07-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769709 SCV000901128 likely benign Breast and/or ovarian cancer 2017-05-04 criteria provided, single submitter clinical testing

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