ClinVar Miner

Variants with conflicting interpretations studied for Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Coded as:
Minimum review status of the submission for Hypotonia, infantile, with psychomotor retardation and characteristic facies 2: Collection method of the submission for Hypotonia, infantile, with psychomotor retardation and characteristic facies 2:
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
110 11 0 10 2 0 1 12

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
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 0 0 0
likely pathogenic 9 0 1 1 0
uncertain significance 0 1 0 2 0
likely benign 0 1 2 0 1
benign 0 0 0 1 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
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 110 11 0 10 2 0 1 12

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631 0.00095
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser) rs869025316 0.00003
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479 0.00001
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) rs864321622 0.00001
NM_001371986.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter) rs1289499829
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr) rs869025317
NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter) rs869025319
NM_001371986.1(UNC80):c.8256+2T>G rs1575179679

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