ClinVar Miner

Variants with conflicting interpretations "benign" from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and "uncertain significance" from Sharing Clinical Reports Project (SCRP)

Minimum review status of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA): Collection method of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile) rs80358424
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408

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