ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario and "pathogenic" from any submitter

Minimum review status of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario: Collection method of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_000059.4(BRCA2):c.2254_2257del (p.Asp752fs) rs80359326
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856

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