ClinVar Miner

Variants from Bionano Laboratories with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Bionano Laboratories: Collection method of the submission from Bionano Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
3808 220 1 0 4 0 19 24

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
Bionano Laboratories pathogenic uncertain significance likely benign
pathogenic 0 14 0
uncertain significance 16 1 4

Submitter to submitter summary #

Total submitters: 4
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Bionano Laboratories 3849 192 0 0 0 0 11 11
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 10 0 0 0 0 8 8
Quest Diagnostics Nichols Institute San Juan Capistrano 0 26 0 0 3 0 2 5
ISCA site 1 0 10 1 0 1 0 1 3

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 10q24.2(chr10:100690060-100911811)x1
GRCh37/hg19 10q25.3(chr10:116322646-116572153)x3
GRCh37/hg19 11p15.1(chr11:16914628-17199531)x4
GRCh37/hg19 11q22.3(chr11:103128365-103282924)x1
GRCh37/hg19 12p12.2-12.1(chr12:21007731-21415496)x1
GRCh37/hg19 12p13.33(chr12:1949889-1986237)x1
GRCh37/hg19 12p13.33(chr12:1950037-1986237)x1
GRCh37/hg19 13q12.11(chr13:20796981-21104487)x1
GRCh37/hg19 13q12.11(chr13:20797314-21034197)x1
GRCh37/hg19 13q31.1(chr13:85812936-86436723)x1
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
GRCh37/hg19 15q13.3(chr15:31352078-31392141)x1
GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1
GRCh37/hg19 17p13.3(chr17:525-632905)x3
GRCh37/hg19 18p11.32(chr18:517102-1331930)x3
GRCh37/hg19 22q11.21(chr22:20030822-20053554)x1
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3
GRCh37/hg19 2q13(chr2:110873834-110983418)x1
GRCh37/hg19 5q14.3(chr5:89940237-89999954)x1
GRCh37/hg19 5q23.3(chr5:130138490-130513653)x1
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
GRCh37/hg19 9p24.3(chr9:209753-246900)x1

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