ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6060A>G (p.Glu2020=)

dbSNP: rs1555284516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478074 SCV000600676 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRCA2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001447306 SCV001650368 likely benign Hereditary breast ovarian cancer syndrome 2020-10-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000506349 SCV002070438 uncertain significance not specified 2021-12-17 criteria provided, single submitter clinical testing

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