ClinVar Miner

Variants with conflicting interpretations "benign" from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research and "likely benign" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum review status of the submission from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research: Collection method of the submission from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006

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