ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9311A>G (p.Lys3104Arg) (rs956554593)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563366 SCV000666068 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
MVZ Praenatalmedizin und Genetik Nuernberg RCV000461266 SCV000494286 uncertain significance Breast-ovarian cancer, familial 2 2017-02-01 no assertion criteria provided clinical testing Rare variant (ExAC: no entry). Different in silico analyses show contradicting results.

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