ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9619A>T (p.Ile3207Phe)

dbSNP: rs1057520802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437230 SCV000517979 likely benign not specified 2015-06-30 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.
CeGaT Center for Human Genetics Tuebingen RCV003326427 SCV004033249 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing BRCA2: PM2, BP1, BP4

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