ClinVar Miner

Variants with conflicting interpretations studied for Atypical Gaucher Disease

Coded as:
Minimum review status of the submission for Atypical Gaucher Disease: Collection method of the submission for Atypical Gaucher Disease:
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
12 2 0 14 14 0 0 27

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
Atypical Gaucher Disease uncertain significance likely benign benign
likely benign 14 0 6
benign 0 8 0

Condition to condition summary #

Total conditions: 5
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
Nonsyndromic Hearing Loss, Recessive 0 0 0 7 13 0 0 20
not provided 0 12 0 6 6 0 0 12
CDH23-Related Disorders 0 0 0 1 9 0 0 10
not specified 0 8 0 5 3 0 0 8
CDH23-related condition 0 0 0 3 0 0 0 3

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.9739-12G>A rs200638595

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