ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Integrated Genetics/Laboratory Corporation of America

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
0 156 0 71 14 0 8 93

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 3 1 1
likely pathogenic 3 0 3 0 0
uncertain significance 0 0 0 7 1
likely benign 0 0 5 0 59
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 93
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000397.3(CYBB):c.1551T>A (p.Asp517Glu) rs151344452
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040
NM_001164617.2(GPC3):c.1354G>A (p.Val452Met) rs11539789
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_002317.7(LOX):c.476C>A (p.Pro159Gln) rs41407546
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003122.4(SPINK1):c.36G>C (p.Leu12Phe) rs35877720
NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006767.4(LZTR1):c.1353+8C>G rs75959644
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_016169.3(SUFU):c.1018G>T (p.Ala340Ser) rs34135067
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962

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