ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8633-4T>A (rs397507407)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132191 SCV000187271 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Color RCV000132191 SCV000689142 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-08 criteria provided, single submitter clinical testing
Counsyl RCV000031756 SCV000785839 uncertain significance Breast-ovarian cancer, familial 2 2017-12-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000442944 SCV000592218 uncertain significance not specified 2014-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000442944 SCV000520390 likely benign not specified 2015-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000122935 SCV000166193 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031756 SCV000054364 uncertain significance Breast-ovarian cancer, familial 2 2011-03-21 no assertion criteria provided clinical testing

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