ClinVar Miner

Variants with conflicting interpretations studied for Short Rib Polydactyly Syndrome

Coded as:
Minimum review status of the submission for Short Rib Polydactyly Syndrome: Y axis collection method of the submission for Short Rib Polydactyly 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
48 217 0 39 26 0 3 66

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
Short Rib Polydactyly Syndrome pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 3 0 1 0 0
uncertain significance 2 1 0 12 16
likely benign 0 0 1 0 35
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 11
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 25 0 34 19 0 0 53
Jeune thoracic dystrophy 0 134 0 14 11 0 2 27
not provided 0 24 0 5 6 0 1 12
Short rib-polydactyly syndrome, Majewski type 0 2 0 6 3 0 0 9
Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5 0 0 0 3 1 0 0 4
Short-rib thoracic dysplasia 16 with or without polydactyly 0 0 0 2 0 0 0 2
DYNC2H1-Related Disorders 0 0 0 0 0 0 1 1
Multiple Epiphyseal Dysplasia, Dominant 0 2 0 1 0 0 0 1
Narrow chest; Intrauterine growth retardation; Bowing of the long bones 0 0 0 0 0 0 1 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 1 0 0 1 1
Short-rib thoracic dysplasia 3 with or without polydactyly 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 66
Download table as spreadsheet
HGVS dbSNP
NM_001006657.1(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_001006657.1(WDR35):c.2182A>G (p.Ile728Val) rs144493712
NM_001006657.1(WDR35):c.2599G>T (p.Val867Phe) rs149667250
NM_001006657.1(WDR35):c.2632G>A (p.Ala878Thr) rs2293669
NM_001006657.1(WDR35):c.3154+12A>C rs28502265
NM_001006657.1(WDR35):c.3154+3G>A rs200042577
NM_001006657.1(WDR35):c.355C>T (p.Arg119Cys) rs140308808
NM_001006657.1(WDR35):c.53A>G (p.Gln18Arg) rs1060742
NM_001006657.1(WDR35):c.549C>T (p.Tyr183=) rs34169020
NM_001006657.1(WDR35):c.770T>C (p.Val257Ala) rs142955097
NM_001080463.1(DYNC2H1):c.10064-7T>A rs376067770
NM_001080463.1(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182
NM_001080463.1(DYNC2H1):c.10482A>G (p.Gln3494=) rs75143468
NM_001080463.1(DYNC2H1):c.10500C>G (p.Leu3500=) rs151056947
NM_001080463.1(DYNC2H1):c.10855G>C (p.Asp3619His) rs116872934
NM_001080463.1(DYNC2H1):c.10866G>A (p.Pro3622=) rs187451323
NM_001080463.1(DYNC2H1):c.11259C>T (p.Ser3753=) rs78599571
NM_001080463.1(DYNC2H1):c.11724C>T (p.Asn3908=) rs144624858
NM_001080463.1(DYNC2H1):c.12028G>A (p.Ala4010Thr) rs61737514
NM_001080463.1(DYNC2H1):c.12275G>A (p.Arg4092His) rs115480556
NM_001080463.1(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435
NM_001080463.1(DYNC2H1):c.12478-6C>T rs11225812
NM_001080463.1(DYNC2H1):c.12886G>C (p.Gly4296Arg) rs144717489
NM_001080463.1(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969
NM_001080463.1(DYNC2H1):c.195+7T>C rs112718117
NM_001080463.1(DYNC2H1):c.21C>T (p.Asp7=) rs17301028
NM_001080463.1(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279
NM_001080463.1(DYNC2H1):c.2818+13T>C rs150786504
NM_001080463.1(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001080463.1(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001080463.1(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868
NM_001080463.1(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062
NM_001080463.1(DYNC2H1):c.3735C>T (p.Ala1245=) rs377584612
NM_001080463.1(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750
NM_001080463.1(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170
NM_001080463.1(DYNC2H1):c.5558+4A>G rs11225578
NM_001080463.1(DYNC2H1):c.645A>G (p.Leu215=) rs116666272
NM_001080463.1(DYNC2H1):c.6478-6C>T rs114254215
NM_001080463.1(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613
NM_001080463.1(DYNC2H1):c.7540+14G>A rs115273161
NM_001080463.1(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217
NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001080463.1(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_001080463.1(DYNC2H1):c.9231+12G>A rs369045696
NM_001080463.1(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001080463.1(DYNC2H1):c.9353+7G>A rs78309870
NM_001080463.1(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294
NM_001080463.1(DYNC2H1):c.9886G>C (p.Glu3296Gln) rs200326353
NM_001080463.1(DYNC2H1):c.9960T>C (p.Ala3320=) rs192003811
NM_001143779.1(IFT81):c.1303_1305delCTT rs1555266475
NM_001303458.1(IFT52):c.878delT rs886037870
NM_001303458.2(IFT52):c.595G>A (p.Ala199Thr) rs886037869
NM_002381.4(MATN3):c.1406-4C>T rs35973216
NM_012224.2(NEK1):c.1021G>A (p.Ala341Thr) rs189186475
NM_012224.2(NEK1):c.1081-8dupT rs398124255
NM_012224.2(NEK1):c.1146T>C (p.Ile382=) rs56064008
NM_012224.2(NEK1):c.1388C>T (p.Ala463Val) rs34540355
NM_012224.2(NEK1):c.1581T>C (p.Ala527=) rs184804243
NM_012224.2(NEK1):c.1746A>G (p.Glu582=) rs17544885
NM_012224.2(NEK1):c.1792G>A (p.Ala598Thr) rs33933790
NM_012224.2(NEK1):c.2337C>T (p.Phe779=) rs56346829
NM_012224.2(NEK1):c.2680+12T>A rs77658514
NM_012224.2(NEK1):c.2949G>A (p.Pro983=) rs7655924
NM_012224.2(NEK1):c.3327G>A (p.Leu1109=) rs56077602
NM_012224.2(NEK1):c.3538G>A (p.Asp1180Asn) rs35503975
NM_012224.2(NEK1):c.607-3T>C rs55679731

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