ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely benign" from Genetic Services Laboratory,University of Chicago

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00102
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00019
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000465.4(BARD1):c.365-7C>T rs745929983 0.00004
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00003
NM_004360.5(CDH1):c.688-4T>C rs781633588 0.00003
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00003
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_024675.4(PALB2):c.212-10del rs766487430

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