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 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
143 23 0 9 0 0 15 22

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 9 15

Submitter to submitter summary #

Total submitters: 7
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 24 0 3 0 0 12 15
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 6 0 3 0 0 0 3
Medical Genetics, University of Parma 0 0 0 0 0 0 2 2
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 4 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 0 0 0 1 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 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1642-3C>G rs1597706610
NM_000267.3(NF1):c.2252-3T>G rs1057518842
NM_000267.3(NF1):c.2410-16A>G rs1567848704
NM_000267.3(NF1):c.2410-18C>G rs533210843
NM_000267.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3446T>C (p.Met1149Thr) rs1131691121
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.4515-19A>G rs1555618994
NM_000267.3(NF1):c.5206-8C>G rs1597831805
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_001042492.3(NF1):c.1642-10A>G rs1597706578
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-3T>G rs1450743199
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met) rs199474781
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6705-5T>G rs1597844956

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