ClinVar Miner

Variants with conflicting interpretations studied for Cutis laxa, recessive

Coded as:
Minimum review status of the submission for Cutis laxa, recessive: Y axis collection method of the submission for Cutis laxa, recessive:
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
130 23 0 18 26 0 0 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
Cutis laxa, recessive uncertain significance likely benign benign
uncertain significance 0 22 7
likely benign 1 0 14
benign 0 4 0

Condition to condition summary #

Total conditions: 9
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 13 0 14 22 0 0 36
Cutis laxa-corneal clouding-oligophrenia syndrome; Spastic paraplegia 9; Cutis laxa, autosomal dominant 3 0 0 0 5 3 0 0 8
Joubert syndrome 0 3 0 4 1 0 0 5
Meckel-Gruber syndrome 0 3 0 4 1 0 0 5
ALG9 congenital disorder of glycosylation 0 0 0 3 1 0 0 4
Autosomal recessive cutis laxa type 1B 0 3 0 0 4 0 0 4
not provided 0 14 0 2 2 0 0 4
Cutis laxa-corneal clouding-oligophrenia syndrome 0 1 0 1 1 0 0 2
Joubert syndrome; Meckel-Gruber syndrome 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_002860.3(ALDH18A1):c.-29+10G>A rs571140165
NM_002860.3(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566
NM_002860.3(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571
NM_002860.3(ALDH18A1):c.1153-13A>G rs370680325
NM_002860.3(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455
NM_002860.3(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404
NM_002860.3(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342
NM_002860.3(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780
NM_002860.3(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934
NM_002860.3(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297
NM_002860.3(ALDH18A1):c.2110+13A>G rs375782465
NM_002860.3(ALDH18A1):c.2207-3C>T rs149309642
NM_002860.3(ALDH18A1):c.492C>T (p.Ala164=) rs150472102
NM_002860.3(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272
NM_006907.3(PYCR1):c.180G>A (p.Val60=) rs142458410
NM_006907.3(PYCR1):c.261G>A (p.Glu87=) rs138261889
NM_006907.3(PYCR1):c.285C>T (p.Cys95=) rs113491328
NM_006907.3(PYCR1):c.348G>A (p.Arg116=) rs35533499
NM_006907.3(PYCR1):c.894C>T (p.Thr298=) rs35589179
NM_012463.3(ATP6V0A2):c.-14C>T rs1139320
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_012463.3(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.3(ATP6V0A2):c.1039-14T>C rs115569365
NM_012463.3(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_012463.3(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641
NM_012463.3(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657
NM_012463.3(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659
NM_012463.3(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342
NM_012463.3(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442
NM_012463.3(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296
NM_012463.3(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_012463.3(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884
NM_012463.3(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.3(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336
NM_012463.3(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118
NM_016938.4(EFEMP2):c.1188C>T (p.Ser396=) rs2234473
NM_016938.4(EFEMP2):c.161-10C>T rs2234461
NM_016938.4(EFEMP2):c.368-11G>A rs181514768
NM_016938.4(EFEMP2):c.885C>T (p.Ser295=) rs142509316
NM_016938.4(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446
NM_024809.4(TCTN2):c.*155G>A rs12811354
NM_024809.4(TCTN2):c.*45G>A rs142969969
NM_024809.4(TCTN2):c.*468C>T rs7398298
NM_024809.4(TCTN2):c.2041T>C (p.Leu681=) rs112158562

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.