ClinVar Miner

Variants with conflicting interpretations studied for Deafness, autosomal recessive 77

Coded as:
Minimum review status of the submission for Deafness, autosomal recessive 77: Y axis collection method of the submission for Deafness, autosomal recessive 77:
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
13 25 0 12 13 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
Deafness, autosomal recessive 77 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 1 1 0 7 2
likely benign 0 0 6 0 8
benign 0 0 1 2 0

Condition to condition summary #

Total conditions: 5
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 9 7 0 0 15
not provided 0 10 0 4 3 0 1 8
Deafness, autosomal recessive 77 53 3 0 4 1 0 0 5
Nonsyndromic Hearing Loss, Recessive 0 3 0 0 4 0 0 4
Nonsyndromic hearing loss and deafness 0 1 0 2 0 0 1 3

All variants with conflicting interpretations #

Total variants: 23
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HGVS dbSNP
NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) rs183531840
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621
NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) rs112463030
NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144612.6(LOXHD1):c.2825_2827delAGA (p.Lys942del) rs142960762
NM_144612.6(LOXHD1):c.3024C>T (p.Val1008=) rs370616818
NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576
NM_144612.6(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149
NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) rs373924055
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.5398C>T (p.Arg1800Trp) rs201994383
NM_144612.6(LOXHD1):c.5616C>A (p.Asn1872Lys) rs61733519
NM_144612.6(LOXHD1):c.5864-15C>T rs397517864
NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) rs199645176
NM_144612.6(LOXHD1):c.611-15T>C rs146912450

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