ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute and "uncertain significance" from any submitter

Minimum review status of the submission from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute: Collection method of the submission from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783

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