ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency and "likely 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: 14
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=) rs368576266 0.00005
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226 0.00004
NM_007294.4(BRCA1):c.5152+15A>G rs750905289 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228 0.00001
NM_000059.4(BRCA2):c.10253_10256del (p.Ile3418fs) rs80359259
NM_000059.4(BRCA2):c.1056C>T (p.Tyr352=) rs786201858
NM_000059.4(BRCA2):c.1077A>G (p.Glu359=) rs1135401832
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=) rs750938749

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