ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.891_899delinsGATACTTAG (p.Thr298_Val300delinsIleLeuArg)

dbSNP: rs1135401937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Molecular Medicine, Queen's University RCV000496827 SCV000588072 likely pathogenic Hereditary breast ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003157599 SCV003847501 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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