ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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 46 0 44 12 0 0 56

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.

likely pathogenic uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 0 0 2 0
likely benign 0 7 0 37
benign 0 3 6 0

All variants with conflicting interpretations #

Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_001040616.3(LINS1):c.1813A>G (p.Met605Val) rs141855950
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128849.2(SMARCA4):c.2275-3C>A rs117611401
NM_001197104.1(KMT2A):c.158C>T (p.Ala53Val) rs9332747
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015243.2(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_015697.8(COQ2):c.344A>C (p.Asp115Ala) rs375934957
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753

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