ClinVar Miner

Variants with conflicting interpretations studied for POLD1-related condition

Minimum review status of the submission for POLD1-related condition: Collection method of the submission for POLD1-related condition:
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
30 71 0 24 17 0 0 33

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
POLD1-related condition uncertain significance likely benign benign
uncertain significance 0 2 0
likely benign 12 0 19
benign 3 5 0

Condition to condition summary #

Total conditions: 3
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 65 0 19 11 0 0 28
not specified 0 39 0 10 11 0 0 18
Hereditary cancer 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027 0.00140
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00062
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) rs140990974 0.00051
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984 0.00027
NM_002691.4(POLD1):c.1017G>T (p.Ser339=) rs373404887 0.00013
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
NM_002691.4(POLD1):c.3072C>T (p.Ala1024=) rs111698572 0.00010
NM_002691.4(POLD1):c.666G>A (p.Pro222=) rs746678748 0.00010
NM_002691.4(POLD1):c.1062G>A (p.Ala354=) rs758535338 0.00007
NM_002691.4(POLD1):c.1503C>T (p.Asn501=) rs371647100 0.00007
NM_002691.4(POLD1):c.2700C>T (p.His900=) rs769965495 0.00006
NM_002691.4(POLD1):c.651G>A (p.Pro217=) rs199622672 0.00006
NM_002691.4(POLD1):c.3015C>T (p.Phe1005=) rs752830545 0.00004
NM_002691.4(POLD1):c.957C>T (p.Cys319=) rs377300843 0.00004
NM_002691.4(POLD1):c.758+5G>A rs760003191 0.00003
NM_002691.4(POLD1):c.1419G>A (p.Thr473=) rs763643495 0.00001
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) rs144707871 0.00001
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile) rs367680864 0.00001
NM_002691.4(POLD1):c.2820+3C>T rs986822818 0.00001
NM_002691.4(POLD1):c.2832C>T (p.Phe944=) rs143974331 0.00001
NM_002691.4(POLD1):c.606C>T (p.His202=) rs200405635 0.00001
NM_002691.4(POLD1):c.1243-11CTC[2] rs760329559
NM_002691.4(POLD1):c.1494+5C>T rs565428379
NM_002691.4(POLD1):c.208G>A (p.Val70Ile) rs147911699
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699

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