ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4358-2704C>T (rs562625234)

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Total submissions: 3
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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) RCV000255850 SCV000321077 benign Breast-ovarian cancer, familial 1 2016-09-28 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0115 (Admixed American/Latino), derived from 1000 genomes (2013-05-02).
GeneDx RCV000123920 SCV000167303 benign not specified 2014-06-06 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 RCV000580321 SCV000683176 benign Hereditary cancer-predisposing syndrome 2016-05-09 criteria provided, single submitter clinical testing

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