ClinVar Miner

Variants from ISCA site 4 with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from ISCA site 4: Collection method of the submission from ISCA site 4:
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
2587 206 7 6 21 0 12 38

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.

All submitters
ISCA site 4 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 7 1 2
uncertain significance 2 2 6 0 11
likely benign 2 0 1 1 4
benign 1 1 15 2 0

Submitter to submitter summary #

Total submitters: 10
Download table as spreadsheet
Submitter 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
ISCA site 1 0 76 5 2 9 0 9 23
ISCA site 4 2718 103 1 2 6 0 3 10
ISCA site 8 0 30 1 0 7 0 0 7
ISCA site 17 0 36 1 0 4 0 1 5
ISCA site 14 0 26 0 0 0 0 3 3
ISCA site 6 0 4 0 0 2 0 0 2
GeneDx 0 3 0 1 0 0 1 1
ISCA site 15 0 4 0 0 1 0 0 1
ISCA site 2 0 34 0 0 1 0 0 1
ISCA site 7 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3
GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3
GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3
GRCh38/hg38 15q13.3(chr15:31806467-32134668)x3
GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1
GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
GRCh38/hg38 17q12(chr17:36180741-36266291)x3
GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1
GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3
GRCh38/hg38 2p11.2(chr2:87148954-87655401)x3
GRCh38/hg38 2p11.2(chr2:87148954-87705899)x3
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3
GRCh38/hg38 2p25.3(chr2:30341-507042)x3
GRCh38/hg38 2p25.3(chr2:84669-206271)x1
GRCh38/hg38 6q11.1(chr6:61468685-62167348)x3
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3
GRCh38/hg38 8q11.1(chr8:46031334-46662449)x1
GRCh38/hg38 8q11.1(chr8:46031334-46792065)x1
GRCh38/hg38 9p24.3(chr9:204193-295405)x3
GRCh38/hg38 9p24.3(chr9:204193-381489)x3
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1

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