ClinVar Miner

Variants with conflicting interpretations studied for DCHS1-related disorder

Minimum review status of the submission for DCHS1-related disorder: Collection method of the submission for DCHS1-related disorder:
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
18 44 0 16 12 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
DCHS1-related disorder uncertain significance likely benign benign
uncertain significance 0 3 0
likely benign 9 0 12
benign 0 4 0

Condition to condition summary #

Total conditions: 2
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
not provided 0 45 0 15 12 0 0 26
not specified 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile) rs7924553 0.03864
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) rs117368891 0.00644
NM_003737.4(DCHS1):c.2996G>A (p.Arg999Gln) rs111781030 0.00281
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys) rs184586428 0.00269
NM_003737.4(DCHS1):c.1545C>T (p.Gly515=) rs147784593 0.00267
NM_003737.4(DCHS1):c.4938G>T (p.Ala1646=) rs77585323 0.00197
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His) rs111515657 0.00182
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) rs150834672 0.00142
NM_003737.4(DCHS1):c.1058G>A (p.Arg353Gln) rs139223913 0.00138
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile) rs146434035 0.00089
NM_003737.4(DCHS1):c.2548C>T (p.Arg850Cys) rs79559386 0.00078
NM_003737.4(DCHS1):c.3764C>T (p.Thr1255Met) rs147152025 0.00044
NM_003737.4(DCHS1):c.1524C>T (p.Val508=) rs140183045 0.00031
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe) rs201094018 0.00031
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His) rs139849372 0.00030
NM_003737.4(DCHS1):c.6862+3G>A rs372790879 0.00030
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala) rs150354113 0.00019
NM_003737.4(DCHS1):c.5036-5C>G rs369059057 0.00016
NM_003737.4(DCHS1):c.6180G>A (p.Gly2060=) rs145160213 0.00011
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=) rs769958055 0.00005
NM_003737.4(DCHS1):c.1798-10C>T rs577182515 0.00001
NM_003737.4(DCHS1):c.8172C>T (p.Leu2724=) rs575189604 0.00001
NM_003737.4(DCHS1):c.8269G>A (p.Ala2757Thr) rs373478460 0.00001
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp) rs141901540
NM_003737.4(DCHS1):c.7428C>T (p.Asn2476=)
NM_003737.4(DCHS1):c.8043C>T (p.Asp2681=)

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