ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Genomic Research Center,Shahid Beheshti University of Medical Sciences

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 16 0 6 7 0 10 23

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 2 5 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 2 0 0 0
likely benign 0 0 7 0 1
benign 1 1 0 1 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_020785.2(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823

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