ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.230del (p.Gly77fs) (rs1057519355)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015159 SCV001175966 pathogenic Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
OMIM RCV000024265 SCV000045556 risk factor Breast-ovarian cancer, familial 3 2012-01-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001195013 SCV001365251 pathogenic Neoplasm of ovary 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Ian Campbell.

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