ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Myriad Genetics, Inc. and "uncertain significance" from any submitter

Minimum review status of the submission from Myriad Genetics, Inc.: Collection method of the submission from Myriad Genetics, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1039-7_1040del rs1559551447 0.00061
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000465.4(BARD1):c.1569-13C>G rs587780018 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.423-11A>G rs1580358224
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.200G>T (p.Gly67Val) rs63749939
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-2A>C rs876658260
NM_000465.4(BARD1):c.2002-2A>G rs876658260
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004360.5(CDH1):c.1320+1G>A
NM_004360.5(CDH1):c.2296-3A>G rs113067020
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn) rs755127902
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala) rs771387164
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1A>G (p.Met1Val) rs863224748
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu) rs863224748
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser) rs878854922
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala) rs397509222
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu) rs41293459
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu) rs869320780
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_024675.3(PALB2):c.2587-2A>G rs1060502787
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro) rs141047069
NM_024675.4(PALB2):c.1685-1G>A rs1057520645
NM_024675.4(PALB2):c.1685-1G>C rs1057520645
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2587-2A>C rs1060502787
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.