ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Counsyl

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
0 126 0 50 7 0 14 71

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 35 4 0 1
likely pathogenic 1 0 6 0 0
uncertain significance 1 2 0 3 2
likely benign 0 0 2 0 6
benign 0 0 0 8 0

All variants with conflicting interpretations #

Total variants: 71
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
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.978C>A (p.Ser326Arg) rs28897706
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000151.4(G6PC):c.377_378TA[3] (p.Tyr128fs) rs80356488
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000352.5(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000492.3(CFTR):c.1327_1330dup (p.Ile444fs) rs397508189
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
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.2252G>T (p.Arg751Leu) rs397508357
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001257342.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_007299.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
Single allele rs376606918

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