ClinVar Miner

Variants with conflicting interpretations "pathogenic" from University of Washington Department of Laboratory Medicine, University of Washington and "uncertain significance" from any submitter

Minimum review status of the submission from University of Washington Department of Laboratory Medicine, University of Washington: Collection method of the submission from University of Washington Department of Laboratory Medicine, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.562C>T (p.Gln188Ter) rs869312753
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650

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