ClinVar Miner

Variants with conflicting interpretations studied for COL11A2-related disorder

Minimum review status of the submission for COL11A2-related disorder: Collection method of the submission for COL11A2-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
14 57 0 20 45 0 2 63

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
COL11A2-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 0 0 22 7
likely benign 0 0 15 0 14
benign 0 0 1 3 0

Condition to condition summary #

Total conditions: 3
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 58 0 19 45 0 1 61
not specified 0 34 0 6 5 0 1 12
Rare genetic deafness 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=) rs148262058 0.00150
NM_080680.3(COL11A2):c.5160C>G (p.Ala1720=) rs139647701 0.00083
NM_080680.3(COL11A2):c.4015-8T>C rs377001136 0.00082
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.1720-4G>T rs369678506 0.00041
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441 0.00027
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met) rs570708095 0.00026
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777 0.00021
NM_080680.3(COL11A2):c.4860G>A (p.Thr1620=) rs200099239 0.00019
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00018
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_080680.3(COL11A2):c.4590C>T (p.Thr1530=) rs375329541 0.00013
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457 0.00011
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln) rs371674362 0.00011
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp) rs143920565 0.00010
NM_080680.3(COL11A2):c.5071-7C>G rs200548977 0.00010
NM_080680.3(COL11A2):c.798+38C>A rs200989046 0.00010
NM_080680.3(COL11A2):c.4392C>T (p.Pro1464=) rs372419316 0.00009
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys) rs752552097 0.00007
NM_080680.3(COL11A2):c.2327G>A (p.Arg776His) rs748159740 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.3583-3C>T rs727502939 0.00005
NM_080680.3(COL11A2):c.5028G>A (p.Pro1676=) rs144290562 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) rs150982987 0.00004
NM_080680.3(COL11A2):c.1119C>T (p.Ala373=) rs753417704 0.00003
NM_080680.3(COL11A2):c.2370C>T (p.Gly790=) rs557164706 0.00003
NM_080680.3(COL11A2):c.2529G>A (p.Thr843=) rs746271341 0.00003
NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu) rs771092817 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_080680.3(COL11A2):c.3743C>T (p.Pro1248Leu) rs959259513 0.00003
NM_080680.3(COL11A2):c.4387C>T (p.Leu1463Phe) rs780582885 0.00003
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=) rs199677738 0.00002
NM_080680.3(COL11A2):c.3748C>T (p.Pro1250Ser) rs867893993 0.00002
NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu) rs764154647 0.00002
NM_080680.3(COL11A2):c.4751-9A>G rs555680585 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.2425C>G (p.Pro809Ala) rs1483323590 0.00001
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter) rs1387164225 0.00001
NM_080680.3(COL11A2):c.3391C>T (p.Arg1131Trp) rs746900226 0.00001
NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser) rs754703121 0.00001
NM_080680.3(COL11A2):c.3591A>C (p.Gln1197His) rs1055206078 0.00001
NM_080680.3(COL11A2):c.3609T>G (p.Val1203=) rs768558233 0.00001
NM_080680.3(COL11A2):c.3653C>T (p.Ser1218Leu) rs375065728 0.00001
NM_080680.3(COL11A2):c.833C>T (p.Pro278Leu) rs770340871 0.00001
NM_080680.3(COL11A2):c.1119+1G>C rs367706373
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg) rs121912945
NM_080680.3(COL11A2):c.2159G>A (p.Arg720Gln) rs756050324
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3211C>T (p.Pro1071Ser)
NM_080680.3(COL11A2):c.3229C>T (p.Pro1077Ser)
NM_080680.3(COL11A2):c.3666del (p.Ile1223fs) rs2534743360
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu) rs142890313

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