ClinVar Miner

Variants with conflicting interpretations studied for EP300-related disorder

Minimum review status of the submission for EP300-related disorder: Collection method of the submission for EP300-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
475 98 0 47 40 0 0 83

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
EP300-related disorder likely pathogenic uncertain significance likely benign benign
pathogenic 3 0 0 0
uncertain significance 0 0 23 1
likely benign 0 17 0 37
benign 0 0 7 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 93 0 45 35 0 0 77
not specified 0 33 0 5 5 0 0 10
See cases 0 0 0 3 1 0 0 4

All variants with conflicting interpretations #

Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00276
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00130
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_001429.4(EP300):c.1686A>C (p.Pro562=) rs144993798 0.00111
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00093
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00090
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496 0.00070
NM_001429.4(EP300):c.4599C>G (p.Thr1533=) rs143885808 0.00068
NM_001429.4(EP300):c.5271C>T (p.Ser1757=) rs138917060 0.00060
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00051
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069 0.00048
NM_001429.4(EP300):c.2568A>G (p.Ala856=) rs145037345 0.00045
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00043
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00038
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00037
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00023
NM_001429.4(EP300):c.394A>T (p.Thr132Ser) rs748820102 0.00023
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser) rs149858781 0.00021
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_001429.4(EP300):c.4752A>G (p.Leu1584=) rs146147293 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114 0.00015
NM_001429.4(EP300):c.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg) rs772707021 0.00011
NM_001429.4(EP300):c.5461C>A (p.Arg1821=) rs780579609 0.00011
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215 0.00011
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser) rs137935821 0.00008
NM_001429.4(EP300):c.2077A>G (p.Met693Val) rs151147205 0.00007
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro) rs200499648 0.00007
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00007
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala) rs751592464 0.00006
NM_001429.4(EP300):c.1352C>A (p.Pro451His) rs140538515 0.00005
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00005
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00005
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu) rs374162524 0.00005
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257 0.00004
NM_001429.4(EP300):c.713G>A (p.Gly238Asp) rs761125378 0.00004
NM_001429.4(EP300):c.2572A>G (p.Thr858Ala) rs201030855 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 0.00003
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr) rs200567960 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_001429.4(EP300):c.*7C>T rs936561690 0.00002
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu) rs763290593 0.00002
NM_001429.4(EP300):c.579C>T (p.Asn193=) rs376004661 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.1303G>A (p.Val435Ile) rs779573838 0.00001
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys) rs772407988 0.00001
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.3355G>A (p.Asp1119Asn) rs759315982 0.00001
NM_001429.4(EP300):c.4558C>G (p.Leu1520Val) rs761660410 0.00001
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser) rs1301322622 0.00001
NM_001429.4(EP300):c.6281A>G (p.Asn2094Ser) rs757490161 0.00001
NM_001429.4(EP300):c.6294A>G (p.Gln2098=) rs1190484549 0.00001
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg) rs943142293 0.00001
NM_001429.4(EP300):c.715C>G (p.Pro239Ala) rs764511770 0.00001
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser) rs202070031
NM_001429.4(EP300):c.2998-3del rs528974321
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3807-7C>T rs1200883341
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.587T>C (p.Ile196Thr)
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1]) rs758586599
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300

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