ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2860C>T (p.Leu954=) (rs730881452)

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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) RCV000494856 SCV000578114 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 RCV000159878 SCV000209947 benign not specified 2014-10-03 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 RCV000554871 SCV000635871 likely benign not provided 2019-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572468 SCV000660970 likely benign Hereditary cancer-predisposing syndrome 2017-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000572468 SCV000903580 likely benign Hereditary cancer-predisposing syndrome 2018-05-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000554871 SCV001133538 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing

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