ClinVar Miner

Variants with conflicting interpretations studied for Joubert syndrome; Meckel-Gruber syndrome

Coded as:
Minimum review status of the submission for Joubert syndrome; Meckel-Gruber syndrome: Y axis collection method of the submission for Joubert syndrome; Meckel-Gruber 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
80 42 0 56 40 1 7 83

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
Joubert syndrome; Meckel-Gruber syndrome pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 13 4 0 0 0
uncertain significance 2 0 0 4 0 0
likely benign 0 0 14 0 4 0
benign 1 0 22 39 0 1

Condition to condition summary #

Total conditions: 21
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 22 0 40 8 0 0 46
Meckel-Gruber syndrome 0 10 0 8 21 0 1 30
Joubert syndrome 0 12 0 10 18 0 2 29
not provided 0 28 0 9 13 0 2 24
Nephronophthisis 0 6 0 3 6 0 0 8
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 0 7 0 3 0 0 1 4
Bardet-Biedl syndrome 0 2 0 0 3 0 0 3
CC2D2A-Related Disorders 0 1 0 1 2 0 0 3
Meckel syndrome type 3 0 1 0 3 0 0 0 3
COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 0 5 0 1 1 0 0 2
Bardet-Biedl syndrome 14 0 0 0 0 1 0 0 1
Bardet-Biedl syndrome; COACH syndrome; Joubert syndrome 6; Meckel syndrome type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11 0 0 0 1 0 0 0 1
Congenital ocular coloboma; Global developmental delay; Visual impairment; Nystagmus; Absent speech; Barrel-shaped chest; Nephropathy; Cerebellar vermis hypoplasia; Tremor; Pancreatitis; Cerebellar malformation; Peritonitis; Infantile muscular hypotonia; Intellectual disability, severe 0 0 0 1 0 0 0 1
Cutis laxa, recessive 0 0 0 1 0 0 0 1
Joubert syndrome 9 0 5 0 0 0 0 1 1
Joubert syndrome; Oligohydramnios; Renal cyst 0 0 0 1 0 0 0 1
Meckel syndrome type 1 0 1 0 1 0 0 0 1
Meckel syndrome type 6 0 0 0 1 0 0 0 1
Meckel syndrome type 8 0 0 0 1 0 0 0 1
Retinitis pigmentosa in ciliopathies, modifier of 0 0 0 0 0 1 0 1
TMEM67-Related Disorders 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2007G>A (p.Ala669=) rs376644970
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.4179+1delG (p.Gly1394Valfs) rs386833760
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4465_4468delGACA (p.Asp1489Lysfs) rs797045437
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001082538.2(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.2(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987
NM_001082538.2(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.2(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.2(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.2(TCTN1):c.473-10T>A rs12307716
NM_001082538.2(TCTN1):c.473-6_473-4delAAA rs10577377
NM_001082538.2(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500
NM_001082538.2(TCTN1):c.702_704delTAA (p.Asn235del) rs797046038
NM_001082538.2(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001082538.2(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_015272.4(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.4(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.4(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.4(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.4(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.4(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.4(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.4(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.4(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.4(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015272.4(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015681.4(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.4(B9D1):c.376T>A (p.Ser126Thr) rs201299216
NM_015681.4(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_017777.3(MKS1):c.1115_1117delCCT (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_017777.3(MKS1):c.1408-34_1408-6del29 rs386834043
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
NM_017777.3(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.3(MKS1):c.27C>T (p.Asp9=) rs369488349
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.3(MKS1):c.959-4G>A rs201137386
NM_024809.4(TCTN2):c.-2G>A rs141768405
NM_024809.4(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024809.4(TCTN2):c.2041T>C (p.Leu681=) rs112158562
NM_024809.4(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.4(TCTN2):c.360C>G (p.Leu120=) rs142452647
NM_024809.4(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.4(TCTN2):c.615C>T (p.Gly205=) rs147485641
NM_024809.4(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.4(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.4(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.4(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.4(TCTN2):c.83-4C>T rs73416299
NM_024809.4(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.4(TCTN2):c.898C>T (p.Leu300=) rs77804131
NM_030578.3(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.5(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.5(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.5(TMEM67):c.1413-1G>C rs386834185
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.5(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs) rs386834202
NM_153704.5(TMEM67):c.781G>A (p.Asp261Asn) rs35793208

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