ClinVar Miner

Variants with conflicting interpretations "likely benign" from Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency and "benign" from any submitter

Minimum review status of the submission from Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency: Collection method of the submission from Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_007294.4(BRCA1):c.5332+13G>T rs372391060 0.00007
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 0.00003
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153

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