ClinVar Miner

Variants from Payam Genetics Center, General Welfare Department of North Khorasan Province with conflicting interpretations

Location: Iran, Islamic Republic of  Primary collection method: clinical testing
Minimum review status of the submission from Payam Genetics Center, General Welfare Department of North Khorasan Province: Collection method of the submission from Payam Genetics Center, General Welfare Department of North Khorasan Province:
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 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
39 10 0 3 1 0 1 4

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
Payam Genetics Center, General Welfare Department of North Khorasan Province pathogenic likely pathogenic uncertain significance
pathogenic 0 2 0
likely pathogenic 1 0 1
benign 0 0 1

Submitter to submitter summary #

Total submitters: 18
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
Revvity Omics, Revvity 0 2 0 2 0 0 0 2
OMIM 0 6 0 1 0 0 0 1
Baylor Genetics 0 2 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 1 0 0 0 1
Ambry Genetics 0 3 0 0 1 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 1 0 0 0 1
Invitae 0 6 0 1 0 0 0 1
Natera, Inc. 0 2 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 4 0 1 0 0 0 1
3billion 0 1 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 1 0 0 0 1
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska" 0 0 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)

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