ClinVar Miner

Variants from Biochemistry Laboratory of CDMU,Chengde Medical University with conflicting interpretations

Location: China — Primary collection method: case-control
Minimum review status of the submission from Biochemistry Laboratory of CDMU,Chengde Medical University: Collection method of the submission from Biochemistry Laboratory of CDMU,Chengde Medical University:
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
31 6 1 3 0 0 6 7

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
Biochemistry Laboratory of CDMU,Chengde Medical University pathogenic likely pathogenic uncertain significance benign
pathogenic 1 2 1 1
likely pathogenic 1 0 4 0

Submitter to submitter summary #

Total submitters: 13
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
GeneDx 0 3 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 0 0 1 0 0 0 1
Athena Diagnostics Inc 0 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 1 0 1 0 0 0 1
Counsyl 0 3 0 1 0 0 0 1
Invitae 0 2 0 0 0 0 1 1
GeneReviews 0 0 1 0 0 0 0 1
RettBASE 0 1 0 0 0 0 1 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000344.3(SMN1):c.840C>T (p.Phe280=)
NM_001271208.1(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_004208.3(AIFM1):c.452G>A (p.Arg151Gln) rs752742151
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444

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