ClinVar Miner

Variants from Medical Genomics Laboratory,Department of Genetics UAB with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Medical Genomics Laboratory,Department of Genetics UAB: Collection method of the submission from Medical Genomics Laboratory,Department of Genetics UAB:
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
148 12 0 17 0 0 15 28

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
Medical Genomics Laboratory,Department of Genetics UAB likely pathogenic uncertain significance
pathogenic 17 15

Submitter to submitter summary #

Total submitters: 11
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
Invitae 0 18 0 3 0 0 8 11
Ambry Genetics 0 4 0 8 0 0 2 10
Center for Human Genetics, Inc 0 6 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 3 0 0 0 3
GeneDx 0 4 0 1 0 0 2 3
Medical Genetics, University of Parma 0 0 0 0 0 0 2 2
Institute of Human Genetics,Cologne University 0 0 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 3 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1642-3C>G
NM_000267.3(NF1):c.2252-3T>G rs1057518842
NM_000267.3(NF1):c.2326-3T>G rs876658946
NM_000267.3(NF1):c.2410-16A>G rs1567848704
NM_000267.3(NF1):c.2410-18C>G rs533210843
NM_000267.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_000267.3(NF1):c.2851-6_2851-3del
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3446T>C (p.Met1149Thr)
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4515-19A>G rs1555618994
NM_000267.3(NF1):c.5206-14C>G rs753463683
NM_000267.3(NF1):c.5206-8C>G
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.587-3C>G rs375188075
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-3C>A rs1131691079
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_001042492.3(NF1):c.1261-19G>A
NM_001042492.3(NF1):c.2410-13A>G

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