ClinVar Miner

Variants with conflicting interpretations studied for TP63-Related Spectrum Disorders

Coded as:
Minimum review status of the submission for TP63-Related Spectrum Disorders: Collection method of the submission for TP63-Related Spectrum Disorders:
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
414 52 0 23 18 0 3 41

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
TP63-Related Spectrum Disorders pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 3 0 4 4
likely benign 0 0 9 0 11
benign 0 0 8 16 0

Condition to condition summary #

Total conditions: 4
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 30 0 14 12 0 2 26
TP63-Related Spectrum Disorders 481 11 0 9 5 0 1 15
TP63-related condition 0 15 0 5 2 0 1 8
not specified 0 6 0 3 0 0 0 3

All variants with conflicting interpretations #

Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.*2636del rs5855278 0.03709
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01158
NM_003722.5(TP63):c.*2002T>G rs35969817 0.00439
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_003722.5(TP63):c.*1181T>C rs565556454 0.00153
NM_003722.5(TP63):c.580-11A>T rs148217164 0.00131
NM_003722.5(TP63):c.1587C>T (p.Leu529=) rs141847552 0.00082
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782 0.00034
NM_003722.5(TP63):c.1827A>G (p.Glu609=) rs147538847 0.00031
NM_003722.5(TP63):c.766+5G>A rs374425727 0.00022
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696 0.00021
NM_003722.5(TP63):c.992+10G>A rs373106660 0.00016
NM_003722.5(TP63):c.374A>C (p.Gln125Pro) rs982556895 0.00013
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln) rs142981128 0.00011
NM_003722.5(TP63):c.1877T>G (p.Val626Gly) rs372318389 0.00010
NM_003722.5(TP63):c.1367C>T (p.Pro456Leu) rs201479097 0.00009
NM_003722.5(TP63):c.1459C>T (p.Arg487Cys) rs777306829 0.00009
NM_003722.5(TP63):c.84T>G (p.His28Gln) rs370716448 0.00009
NM_003722.5(TP63):c.1127G>A (p.Arg376His) rs143591434 0.00008
NM_003722.5(TP63):c.1083G>A (p.Lys361=) rs148937466 0.00006
NM_003722.5(TP63):c.387G>A (p.Ser129=) rs151335217 0.00006
NM_003722.5(TP63):c.992+9C>T rs369838833 0.00005
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr) rs138832017 0.00004
NM_003722.5(TP63):c.688G>C (p.Val230Leu) rs201466089 0.00004
NM_003722.5(TP63):c.900G>A (p.Thr300=) rs372807713 0.00003
NM_003722.5(TP63):c.1213-4A>G rs763128484 0.00002
NM_003722.5(TP63):c.1761G>A (p.Leu587=) rs573105911 0.00002
NM_003722.5(TP63):c.109C>T (p.Arg37Ter) rs147340040 0.00001
NM_003722.5(TP63):c.1404A>G (p.Lys468=) rs753627633 0.00001
NM_003722.5(TP63):c.1644C>T (p.Ser548=) rs763019843 0.00001
NM_003722.5(TP63):c.*2555dup rs772929136
NM_003722.5(TP63):c.1007G>A (p.Gly336Asp) rs2108806204
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.1655T>G (p.Phe552Cys) rs886039443
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.20G>T (p.Arg7Leu) rs568702479
NM_003722.5(TP63):c.324+7G>A rs930341004
NM_003722.5(TP63):c.435G>C (p.Ala145=) rs546908184
NM_003722.5(TP63):c.517G>C (p.Gly173Arg) rs1057521750
NM_003722.5(TP63):c.566C>T (p.Ser189Leu) rs866938979

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