ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7347T>C (p.Ile2449=) (rs1057520563)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418214 SCV000516051 likely benign not specified 2017-11-06 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 RCV000464064 SCV000560450 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000418214 SCV000916923 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000464064 SCV001133894 likely benign not provided 2018-09-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000464064 SCV001148989 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing

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