ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3281del (p.Lys1094fs)

dbSNP: rs2072476789
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284562 SCV001470415 pathogenic not provided 2019-12-12 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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