ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1008A>G (p.Thr336=) (rs1060504568)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457862 SCV000560249 likely benign Hereditary breast and ovarian cancer syndrome 2017-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506233 SCV000600234 uncertain significance not specified 2017-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565896 SCV000668493 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000506233 SCV000715595 likely benign not specified 2017-01-27 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.

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