ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department of Medical Genetics, University Hospital of North Norway and "pathogenic" from any submitter

Minimum review status of the submission from Department of Medical Genetics, University Hospital of North Norway: Collection method of the submission from Department of Medical Genetics, University Hospital of North Norway:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751

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