ClinVar Miner

Variants with conflicting interpretations studied for Neurofibromatosis, familial spinal

Coded as:
Minimum review status of the submission for Neurofibromatosis, familial spinal: Y axis collection method of the submission for Neurofibromatosis, familial spinal:
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
3 59 0 17 13 0 0 27

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 conditions
Neurofibromatosis, familial spinal uncertain significance likely benign benign
uncertain significance 0 10 2
likely benign 3 0 17

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition 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
Hereditary cancer-predisposing syndrome 0 5 0 14 8 0 0 22
not specified 0 2 0 16 6 0 0 22
Neurofibromatosis, type 1 0 65 0 15 8 0 0 21
not provided 0 2 0 15 6 0 0 20
Tumor susceptibility linked to germline BAP1 mutations 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.4661+11A>G rs368649260
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.730+16dupA rs373999174
NM_001042492.2(NF1):c.*4T>C rs201044568
NM_001042492.2(NF1):c.168C>T (p.Ser56=) rs17881168
NM_001042492.2(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.2(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_001042492.2(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_001042492.2(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_001042492.2(NF1):c.340C>T (p.Leu114=) rs7207410
NM_001042492.2(NF1):c.369C>G (p.Thr123=) rs146691765
NM_001042492.2(NF1):c.4749A>G (p.Glu1583=) rs144091165
NM_001042492.2(NF1):c.4851A>G (p.Gln1617=) rs150309802
NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042492.2(NF1):c.4929G>A (p.Val1643=) rs17880521
NM_001042492.2(NF1):c.6393C>T (p.His2131=) rs17881788
NM_001042492.2(NF1):c.6555G>A (p.Arg2185=) rs786203189
NM_001042492.2(NF1):c.7026G>A (p.Leu2342=) rs371581213
NM_001042492.2(NF1):c.702G>A (p.Leu234=) rs1801052
NM_001042492.2(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.2(NF1):c.7755C>T (p.Ser2585=) rs17881980
NM_001042492.2(NF1):c.8151G>A (p.Pro2717=) rs2285895
NM_001042492.2(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042492.2(NF1):c.8499T>C (p.Asn2833=) rs142636150

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