ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1129G>C (p.Glu377Gln) (rs876658625)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV000458440 SCV000540925 uncertain significance Breast-ovarian cancer, familial 2 2017-04-01 no assertion criteria provided clinical testing This rare/private variant (ExAC: no entry) was not found in databases and literature. Multiple in silico analyses agree on a benign prediction but are not sufficient for classification. Therefore we rate this variant as Variant of unknown significance (VUS)

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