ClinVar Miner

Variants with conflicting interpretations studied for COL11A1-related condition

Minimum review status of the submission for COL11A1-related condition: Collection method of the submission for COL11A1-related condition:
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
37 35 0 22 26 0 2 44

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
COL11A1-related condition pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 7 3
likely benign 0 0 15 0 18
benign 0 0 1 3 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition 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
not provided 0 38 0 21 24 0 2 41
not specified 0 6 0 3 2 0 0 5

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala) rs144966407 0.00037
NM_001854.4(COL11A1):c.990+7C>T rs137867554 0.00036
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624 0.00019
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser) rs145159429 0.00018
NM_001854.4(COL11A1):c.3492+3G>A rs372941709 0.00013
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=) rs141770006 0.00009
NM_001854.4(COL11A1):c.4087-4A>G rs137999403 0.00009
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys) rs372387693 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro) rs775587076 0.00006
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=) rs142506188 0.00004
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile) rs1283924469 0.00004
NM_001854.4(COL11A1):c.2916+3A>G rs200515572 0.00004
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=) rs375400337 0.00003
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001854.4(COL11A1):c.1717A>G (p.Thr573Ala) rs560019202 0.00001
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=) rs544663655 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3147C>G (p.Pro1049=) rs539284752 0.00001
NM_001854.4(COL11A1):c.4609-8C>A rs777390779 0.00001
NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=) rs202048103 0.00001
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg) rs1351190778 0.00001
NM_001854.4(COL11A1):c.990+8G>A rs756299328 0.00001
NM_001854.4(COL11A1):c.1453C>A (p.Leu485Ile) rs536428525
NM_001854.4(COL11A1):c.2043+4T>A rs764236870
NM_001854.4(COL11A1):c.2098-4dup rs764570124
NM_001854.4(COL11A1):c.2340+9_2340+13del rs374301870
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
NM_001854.4(COL11A1):c.3817-14_3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-15_3817-13dup rs34228277
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001854.4(COL11A1):c.612G>T (p.Thr204=) rs545867472

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