ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10183del (p.Glu3395fs) (rs1064795488)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480459 SCV000571344 likely benign not specified 2017-09-01 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.
Ambry Genetics RCV000562008 SCV000661254 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Moderate segregation with disease (at least 3 informative meioses) for rare diseases.
Invitae RCV000637916 SCV000759396 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing

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