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
89 25 0 4 4 0 2 9

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
likely pathogenic 1 2 0 0
uncertain significance 0 0 3 1
benign 0 0 3 0

Submitter to submitter summary #

Total submitters: 9
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 7 0 1 2 0 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
Ambry Genetics 0 2 0 0 1 0 0 1
Counsyl 0 2 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 3 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 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 Health, Inc 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569

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