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
98 44 1 19 3 0 10 31

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
pathogenic 0 17 5 0
likely pathogenic 1 1 0 0
uncertain significance 2 3 0 1
likely benign 0 0 2 0
benign 0 0 0 1

Condition to condition summary #

Total conditions: 18
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 provided 0 33 0 4 1 0 5 10
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 0 6 0 3 0 0 1 4
Meckel syndrome type 3 0 2 0 3 0 0 1 4
Joubert syndrome 0 10 0 1 1 0 1 3
Meckel syndrome type 6 0 0 1 2 0 0 0 3
Meckel-Gruber syndrome 0 7 0 2 0 0 1 3
Joubert syndrome 9 0 8 0 1 0 0 1 2
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
CC2D2A-Related Disorders 0 1 0 1 0 0 0 1
COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 0 4 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
Inborn genetic diseases 0 1 0 1 0 0 0 1
Joubert syndrome 6 0 6 0 1 0 0 0 1
Joubert syndrome; Oligohydramnios; Renal cyst 0 0 0 1 0 0 0 1
Meckel syndrome type 1 0 2 0 1 0 0 0 1
Meckel syndrome, type 9 0 0 0 1 0 0 0 1
TMEM67-Related Disorders 0 3 0 1 0 0 0 1
not specified 0 6 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
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.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001142301.1(TMEM67):c.1079G>T (p.Arg360Leu) rs386834183
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.1457A>G (p.Tyr486Cys) rs148726767
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr) rs267607119
NM_001142301.1(TMEM67):c.336_337del (p.Gly114fs) rs386834202
NM_001142301.1(TMEM67):c.482A>G (p.Asn161Ser) rs775883520
NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser) rs386834180
NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys) rs863225235
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.341+2T>C rs143149764

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