Variants with conflicting interpretations studied for Bloom syndrome

Minimum review status of the submission for Bloom syndrome:		Collection method of the submission for Bloom syndrome:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		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
2702	637	0	123	62	0	10	180

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
Bloom syndrome		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	91	4	0	0
	likely pathogenic	91	0	7	0	0
	uncertain significance	4	7	0	51	25
	likely benign	0	0	51	0	32
	benign	0	0	25	32	0

Condition to condition summary #

Total conditions: 1

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
Bloom syndrome	2702	637	0	123	62	0	10	180

All variants with conflicting interpretations #

Total variants: 180

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	rs2227935	0.06742
NM_000057.4(BLM):c.2075-12G>T	rs28385027	0.00541
NM_000057.4(BLM):c.615G>A (p.Lys205=)	rs28903082	0.00496
NM_000057.4(BLM):c.4076+4T>G	rs183176301	0.00436
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)	rs2229035	0.00421
NM_000057.4(BLM):c.2160C>T (p.Ile720=)	rs28385028	0.00303
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00278
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)	rs28385141	0.00245
NM_000057.4(BLM):c.2075-14T>C	rs28385026	0.00240
NM_000057.4(BLM):c.4077-10C>T	rs145310008	0.00233
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)	rs141503266	0.00213
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	rs146077918	0.00172
NM_000057.4(BLM):c.2268A>G (p.Lys756=)	rs146013879	0.00163
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	rs142551229	0.00140
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	rs140524886	0.00115
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00102
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)	rs28377085	0.00098
NM_000057.4(BLM):c.3359-13A>G	rs200250931	0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	rs35224686	0.00092
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)	rs149754073	0.00086
NM_000057.4(BLM):c.465T>C (p.Asp155=)	rs185349681	0.00051
NM_000057.4(BLM):c.3020-15C>T	rs200210516	0.00047
NM_000057.4(BLM):c.3798T>G (p.Val1266=)	rs138831180	0.00043
NM_000057.4(BLM):c.816G>A (p.Lys272=)	rs139295905	0.00038
NM_000057.4(BLM):c.1467G>A (p.Arg489=)	rs56257041	0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)	rs1801256	0.00031
NM_000057.4(BLM):c.191A>T (p.Asp64Val)	rs140382474	0.00026
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)	rs557057587	0.00023
NM_000057.4(BLM):c.807C>T (p.Ser269=)	rs147850738	0.00018
NM_000057.4(BLM):c.3751+10C>T	rs199685140	0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	rs200690226	0.00015
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)	rs369383272	0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)	rs61754135	0.00013
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)	rs139610577	0.00012
NM_000057.4(BLM):c.1315A>G (p.Met439Val)	rs201231857	0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)	rs201770808	0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)	rs189925962	0.00010
NM_000057.4(BLM):c.2739C>T (p.Leu913=)	rs759223856	0.00009
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)	rs774075577	0.00008
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	rs138542210	0.00007
NM_000057.4(BLM):c.114A>G (p.Lys38=)	rs770017301	0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=)	rs147587050	0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=)	rs201220226	0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)	rs369629509	0.00006
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00006
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)	rs527291754	0.00006
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)	rs201427280	0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	rs587779884	0.00004
NM_000057.4(BLM):c.98+1G>C	rs750293380	0.00003
NM_000057.4(BLM):c.3019+17T>C	rs532036885	0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs)	rs780379121	0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)	rs770311534	0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)	rs587779888	0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)	rs918752814	0.00002
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)	rs1057516964	0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)	rs368547042	0.00001
NM_000057.4(BLM):c.1674A>T (p.Ile558=)	rs770573584	0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=)	rs79871543	0.00001
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)	rs770255643	0.00001
NM_000057.4(BLM):c.1833A>G (p.Ser611=)	rs747181657	0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs)	rs772785079	0.00001
NM_000057.4(BLM):c.204C>T (p.Thr68=)	rs199927688	0.00001
NM_000057.4(BLM):c.2169A>G (p.Gln723=)	rs781635047	0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=)	rs933356579	0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)	rs786204471	0.00001
NM_000057.4(BLM):c.2308-5C>T	rs957805754	0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)	rs148394770	0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs)	rs367543019	0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=)	rs765233032	0.00001
NM_000057.4(BLM):c.2555+8G>A	rs1388713132	0.00001
NM_000057.4(BLM):c.3020-258A>G	rs1301751251	0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)	rs746218707	0.00001
NM_000057.4(BLM):c.3210+4A>G	rs776621429	0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)	rs1396484162	0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)	rs1023322113	0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)	rs151114049	0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)	rs1057517154	0.00001
NM_000057.4(BLM):c.3875-2A>G	rs150421256	0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly)	rs746979958	0.00001
NM_000057.4(BLM):c.3924A>T (p.Gly1308=)	rs1019687102	0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)	rs756451802	0.00001
NM_000057.4(BLM):c.437A>T (p.Asp146Val)	rs902876126	0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)	rs201845548	0.00001
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)	rs1057517359
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)	rs1057517030
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	rs1567040469
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)	rs1350192744
NM_000057.4(BLM):c.1221-2A>C	rs1555419779
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)	rs887921909
NM_000057.4(BLM):c.1316del (p.Met439fs)	rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs)	rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)	rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs)	rs2151158316
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)	rs2151158332
NM_000057.4(BLM):c.1544dup (p.Asn515fs)	rs367543043
NM_000057.4(BLM):c.1549dup (p.Ser517fs)	rs1555419902
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)	rs1205301894
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)	rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)	rs1057516361
NM_000057.4(BLM):c.1752del (p.Gln585fs)	rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)	rs1057516956
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)	rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
NM_000057.4(BLM):c.213_214del (p.Ser72fs)	rs960430492
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1G>A	rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del	rs1060500652
NM_000057.4(BLM):c.2205A>G (p.Thr735=)	rs757134420
NM_000057.4(BLM):c.2268del (p.Asp757fs)	rs747341586
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	rs1555420602
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)	rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)	rs1567045235
NM_000057.4(BLM):c.2406+2T>G	rs367543016
NM_000057.4(BLM):c.2407-7del	rs769184675
NM_000057.4(BLM):c.2407-9del	rs747699258
NM_000057.4(BLM):c.2407dup (p.Trp803fs)	rs367543012
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)	rs1412341951
NM_000057.4(BLM):c.2580_2581del (p.His860fs)	rs864622347
NM_000057.4(BLM):c.2583T>C (p.Asn861=)	rs1896651230
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)	rs1060503989
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)	rs758311406
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)	rs1896712163
NM_000057.4(BLM):c.2824-7A>G	rs374616797
NM_000057.4(BLM):c.2851_2857del (p.Met951fs)	rs1309932713
NM_000057.4(BLM):c.298_299del (p.Gln100fs)	rs745807085
NM_000057.4(BLM):c.299dup (p.Arg101fs)
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)	rs1555423119
NM_000057.4(BLM):c.3039T>C (p.His1013=)	rs747406569
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)	rs367543029
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)	rs1555423753
NM_000057.4(BLM):c.3305_3306del (p.His1102fs)	rs1057516253
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)	rs1567060305
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)	rs771776126
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)	rs367543033
NM_000057.4(BLM):c.3499del (p.Ala1167fs)	rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs)	rs1555424311
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs)	rs1555424372
NM_000057.4(BLM):c.357_358del (p.Cys120fs)	rs748186908
NM_000057.4(BLM):c.3589del (p.Ser1197fs)	rs1555424376
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
NM_000057.4(BLM):c.3638del (p.Glu1213fs)	rs1057516547
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)	rs1897236255
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs)	rs1234064430
NM_000057.4(BLM):c.3751+10C>G	rs199685140
NM_000057.4(BLM):c.3753del (p.Glu1251fs)	rs1275708646
NM_000057.4(BLM):c.3845del (p.Leu1282fs)	rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)	rs367543031
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)	rs2151198389
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)	rs1596273405
NM_000057.4(BLM):c.3890del (p.Pro1297fs)	rs1555425062
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs)	rs1057516261
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)	rs886051553
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)	rs1555418352
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)	rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs)	rs1170049553
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.709del (p.Cys237fs)	rs1217879599
NM_000057.4(BLM):c.729del (p.Ile243fs)
NM_000057.4(BLM):c.74T>G (p.Leu25Ter)	rs1895534883
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.772_773del (p.Leu258fs)	rs367543013
NM_000057.4(BLM):c.800-2A>G	rs1895690125
NM_000057.4(BLM):c.855del (p.Val286fs)	rs2151149598
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
NM_000057.4(BLM):c.98+1G>A	rs750293380
NM_000057.4(BLM):c.98+1G>T	rs750293380
NM_000057.4(BLM):c.98+2dup	rs1555418016
NM_000057.4(BLM):c.99-8_112del	rs2151146678
NM_000057.4(BLM):c.99-9_99-7del	rs1229333064
NM_000057.4(BLM):c.991_995del (p.Lys331fs)	rs786204524

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