ClinVar Miner

Variants with conflicting interpretations studied for Cornelia de Lange Syndrome

Coded as:
Minimum review status of the submission for Cornelia de Lange Syndrome: Y axis collection method of the submission for Cornelia de Lange Syndrome:
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
111 14 0 32 12 0 0 39

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
Cornelia de Lange Syndrome uncertain significance likely benign benign
uncertain significance 0 1 1
likely benign 10 0 32

Condition to condition summary #

Total conditions: 6
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 14 0 28 1 0 0 29
History of neurodevelopmental disorder 0 15 0 10 2 0 0 12
Cornelia de Lange syndrome 3 0 0 0 4 5 0 0 8
Cornelia de Lange syndrome 1 0 3 0 5 2 0 0 7
Congenital muscular hypertrophy-cerebral syndrome 0 0 0 4 1 0 0 5
not provided 0 7 0 3 1 0 0 4

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_005445.3(SMC3):c.1092-8T>G rs79912955
NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) rs142524280
NM_005445.3(SMC3):c.1365T>C (p.Tyr455=) rs75323904
NM_005445.3(SMC3):c.1671-6A>G rs200848781
NM_005445.3(SMC3):c.2007T>C (p.Tyr669=) rs147404470
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.2535+15T>G rs3818903
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.2934G>A (p.Lys978=) rs147463420
NM_005445.3(SMC3):c.548-5_548-4dup rs199906378
NM_006306.3(SMC1A):c.*14C>T rs112727682
NM_006306.3(SMC1A):c.1173G>A (p.Gln391=) rs147952638
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) rs142611198
NM_006306.3(SMC1A):c.3591C>T (p.Ala1197=) rs146216425
NM_006306.3(SMC1A):c.412-10C>T rs149219651
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.3121+11T>G rs457583
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.4(NIPBL):c.4240-14T>G rs298972
NM_133433.4(NIPBL):c.4421+7A>G rs76297333
NM_133433.4(NIPBL):c.4561-9T>A rs79924167
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015

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