ClinVar Miner

Variants with conflicting interpretations studied for Lethal multiple pterygium syndrome

Coded as:
Minimum review status of the submission for Lethal multiple pterygium syndrome: Y axis collection method of the submission for Lethal multiple pterygium 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 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
327 21 0 4 18 0 1 23

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
Lethal multiple pterygium syndrome likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 14 4
likely benign 0 14 0 4
benign 0 4 4 0

Condition to condition summary #

Total conditions: 1
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
Lethal multiple pterygium syndrome 327 21 0 4 18 0 1 23

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545
NM_000751.3(CHRND):c.1253-10T>G rs199508773
NM_000751.3(CHRND):c.1253-9C>T rs2853458
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750
NM_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328
NM_001039523.3(CHRNA1):c.1077+9G>A rs368959759
NM_001039523.3(CHRNA1):c.1323G>A (p.Ala441=) rs17838545
NM_001039523.3(CHRNA1):c.1368C>T (p.Leu456=) rs146899588
NM_001039523.3(CHRNA1):c.1369G>A (p.Gly457Arg) rs151081792
NM_001039523.3(CHRNA1):c.1407C>T (p.Ala469=) rs771587252
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039523.3(CHRNA1):c.798C>T (p.Pro266=) rs189442556
NM_001039523.3(CHRNA1):c.888G>A (p.Leu296=) rs374093236
NM_001039523.3(CHRNA1):c.987C>T (p.Phe329=) rs373005571

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