ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8817G>C (p.Lys2939Asn) (rs397507414)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509817 SCV000608150 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000765142 SCV000896368 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
Color RCV000509817 SCV000906692 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031770 SCV000054378 uncertain significance Breast-ovarian cancer, familial 2 2012-01-12 no assertion criteria provided clinical testing

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