ClinVar Miner

Variants from Center of Medical Genetics and Primary Health Care with conflicting interpretations

Location: Armenia  Primary collection method: research
Minimum review status of the submission from Center of Medical Genetics and Primary Health Care: Collection method of the submission from Center of Medical Genetics and Primary Health Care:
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
84 29 0 4 5 1 2 10

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
Center of Medical Genetics and Primary Health Care pathogenic uncertain significance likely benign benign pathogenic, low penetrance
likely pathogenic 1 2 0 0 1
uncertain significance 0 0 5 1 0
benign 0 0 3 0 0

Submitter to submitter summary #

Total submitters: 17
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
Invitae 0 8 0 0 2 1 1 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 2 2
Myriad Genetics, Inc. 0 3 0 0 1 0 1 2
Baylor Genetics 0 9 0 1 0 0 0 1
GeneDx 0 5 0 0 1 0 0 1
Ambry Genetics 0 3 0 0 1 0 0 1
PreventionGenetics, part of Exact Sciences 0 2 0 0 1 0 0 1
Counsyl 0 2 0 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 0 1 0 0 1
Sema4, Sema4 0 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 2 0 0 1 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 0 0 0 1 1
Research Unit of Translational Medicine, University of Oulu 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala) rs150949949 0.00012
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.