ClinVar Miner

Variants with conflicting interpretations studied for Craniosynostosis

Coded as:
Minimum review status of the submission for Craniosynostosis: Y axis collection method of the submission for Craniosynostosis:
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
22 176 7 27 5 0 3 38

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
Craniosynostosis pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 7 4 2 0 0
uncertain significance 0 1 0 3 0
likely benign 0 0 0 0 16
benign 0 0 2 7 0

Condition to condition summary #

Total conditions: 17
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
not specified 0 28 0 17 2 0 0 19
not provided 0 20 0 7 2 0 1 10
Kallmann syndrome 2; Pfeiffer syndrome 0 1 0 6 0 0 0 6
FGFR2 related craniosynostosis 0 3 0 5 0 0 0 5
Hypochondroplasia 0 1 4 0 0 0 0 4
Bladder carcinoma 0 0 0 3 0 0 0 3
Carcinoma 0 0 0 3 0 0 0 3
Thanatophoric dysplasia type 1 0 0 3 0 0 0 1 3
Papillary renal cell carcinoma, sporadic 0 0 0 2 0 0 0 2
Transitional cell carcinoma of the bladder 0 0 0 2 0 0 0 2
Acanthosis nigricans 0 0 0 1 0 0 0 1
Achondroplasia 0 2 0 0 0 0 1 1
Craniosynostosis, nonspecific 0 0 0 0 1 0 0 1
Myeloproliferative disorder 0 0 0 1 0 0 0 1
Parietal foramina 1 0 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_000141.4(FGFR2):c.-46G>A rs201606812
NM_000141.4(FGFR2):c.109+10T>G rs3135722
NM_000141.4(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_000141.4(FGFR2):c.2001C>G (p.Val667=) rs61731218
NM_000141.4(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_000142.4(FGFR3):c.1052C>G (p.Ser351Cys) rs1057517964
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.4(FGFR3):c.1223C>T (p.Ser408Phe) rs761877926
NM_000142.4(FGFR3):c.130G>A (p.Gly44Ser) rs146080119
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.4(FGFR3):c.1497C>T (p.Ala499=) rs140594137
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.169G>A (p.Val57Met) rs61735064
NM_000142.4(FGFR3):c.188C>G (p.Pro63Arg) rs371729802
NM_000142.4(FGFR3):c.193G>A (p.Gly65Arg) rs2305178
NM_000142.4(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.4(FGFR3):c.1953A>G (p.Thr651=) rs7688609
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000142.4(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000142.4(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.4(FGFR3):c.252G>A (p.Ser84=) rs367973461
NM_000142.4(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865
NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) rs200776757
NM_023110.2(FGFR1):c.2187-6C>T rs4647904
NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) rs56341011
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_023110.2(FGFR1):c.345C>T (p.Ser115=) rs2915665
NM_023110.2(FGFR1):c.449-9C>G rs17182303
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898

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