Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)	SNV Germline	Chr17:44380004	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16 Glanzmann thrombasthenia 1 Condition: not provided	Reviewed By Expert Panel	CA115834	rs_137852906	6 SubmittersRCV000003026 RCV001580165 RCV004795368 RCV005644470
NM_000419.5(ITGA2B):c.2602-3C>G	SNV Germline	Chr17:44375719	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA10575472	rs_763330792	3 SubmittersRCV000003027 RCV001580164
NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp)	SNV Germline	Chr17:44384567	Likely pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia	Reviewed By Expert Panel	CA115837	rs_137852907	2 SubmittersRCV000003028 RCV001580249
NM_000419.5(ITGA2B):c.1544+1G>A	SNV Germline	Chr17:44380385	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA10575473	rs_879255509	2 SubmittersRCV000003029 RCV001580163
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)	SNV Germline	Chr17:44383630	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA115839	rs_137852908	4 SubmittersRCV000003030 RCV001580162
NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys)	SNV Germline	Chr17:44383640	Pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia	Reviewed By Expert Panel	CA115844	rs_137852910	3 SubmittersRCV000003033 RCV001580264
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)	SNV Germline	Chr17:44379780	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1 ITGA2B-related disorder Condition: not provided	Reviewed By Expert Panel	CA115846	rs_76811038	7 SubmittersRCV000003034 RCV001580160 RCV004737134 RCV005429212
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro)	SNV Germline	Chr17:44385193	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1 Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16 Condition: not provided	Reviewed By Expert Panel	CA115848	rs_137852911	6 SubmittersRCV000003035 RCV001580159 RCV005007810 RCV004719613
NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His)	SNV Germline	Chr17:44379689	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA115852	rs_80277041	2 SubmittersRCV000003037 RCV001580157
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)	SNV Germline	Chr17:47286364	Pathogenic	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia Platelet-type bleeding disorder 16 Condition: not provided Bleeding disorder, platelet-type, 24 Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Myocardial infarction, susceptibility to	Reviewed By Expert Panel	CA123224	rs_121918444	6 SubmittersRCV000014512 RCV001580254 RCV002243642 RCV003137524 RCV005229790 RCV004795409
NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr)	SNV Germline	Chr17:47284514	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA123226	rs_121918445	2 SubmittersRCV000014513 RCV001374370
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)	SNV Germline	Chr17:47286363	Likely pathogenic	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia Glanzmann thrombasthenia 1 Condition: not provided	Reviewed By Expert Panel	CA123228	rs_121918446	6 SubmittersRCV000014514 RCV001580253 RCV002243643 RCV002513046
NM_000212.3(ITGB3):c.165+1G>T	SNV Germline	Chr17:47274505	Pathogenic	Glanzmann thrombasthenia 2	No Assertion Criteria Provided	CA400031853	rs_2143068731	1 SubmittersRCV000014527
NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr)	SNV Germline	Chr17:47291027	Pathogenic	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA123244	rs_121918449	3 SubmittersRCV000014530 RCV001801833 RCV003556015
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)	SNV Germline	Chr17:47307584	Pathogenic	Glanzmann thrombasthenia Platelet-type bleeding disorder 16 Glanzmann thrombasthenia 2 Glanzmann thrombasthenia 1 Condition: not provided Hyper-IgE recurrent infection syndrome 1, autosomal dominant Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Myocardial infarction, susceptibility to	Reviewed By Expert Panel	CA123246	rs_121918450	8 SubmittersRCV000014532 RCV001335177 RCV001374371 RCV002243644 RCV003128571 RCV004813040 RCV005016261
NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter)	SNV Germline	Chr17:47300488	Pathogenic	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA123249	rs_121918451	4 SubmittersRCV000014533 RCV001801834 RCV001851854
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp)	SNV Germline	Chr17:47284509	Pathogenic	Glanzmann thrombasthenia 2 Glanzmann thrombasthenia Glanzmann thrombasthenia 1 Condition: not provided Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Myocardial infarction, susceptibility to	Reviewed By Expert Panel	CA123252	rs_121918452	6 SubmittersRCV000014535 RCV001580250 RCV003448246 RCV003736537 RCV005016262
NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)	SNV Germline/somatic	Chr17:44384949	Likely pathogenic	Condition: not provided Glanzmann thrombasthenia	Reviewed By Expert Panel	CA229004	rs_483352692	2 SubmittersRCV000087169 RCV002510782
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)	SNV Germline	Chr17:44376323	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1 Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16 ITGA2B-related disorder	Reviewed By Expert Panel	CA290947544	rs_74475415	6 SubmittersRCV000490428 RCV002254157 RCV004796106 RCV004547508
NM_000419.5(ITGA2B):c.2728-15G>T	SNV Germline	Chr17:44375126	Conflicting classifications of pathogenicity	Glanzmann thrombasthenia	Criteria Provided Conflicting Classifications	CA10639811	rs_540296465	2 SubmittersRCV000387815
NM_000419.5(ITGA2B):c.2871G>A (p.Ser957=)	SNV Germline	Chr17:44374731	Conflicting classifications of pathogenicity	Glanzmann thrombasthenia	Criteria Provided Conflicting Classifications	CA8602546	rs_759462215	2 SubmittersRCV000334068
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly)	SNV Germline	Chr17:47286394	Likely pathogenic	Abnormal bleeding Prolonged bleeding time Platelet-type bleeding disorder 16 Glanzmann thrombasthenia	Reviewed By Expert Panel	CA16043530	rs_1057518838	2 SubmittersRCV000415046 RCV001197460 RCV003221968
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter)	SNV Germline	Chr17:47299316	Pathogenic	Abnormal bleeding Prolonged bleeding time Platelet-type bleeding disorder 16 Glanzmann thrombasthenia	Reviewed By Expert Panel	CA16043531	rs_1057518837	2 SubmittersRCV000414924 RCV001197459 RCV003221967
NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met)	SNV Germline	Chr17:44374470	Pathogenic	Condition: not provided Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA16608466	rs_78657866	4 SubmittersRCV000443560 RCV001225295 RCV002225613
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg)	SNV Germline	Chr17:44381038	Pathogenic	Condition: not provided Glanzmann thrombasthenia Glanzmann thrombasthenia 1 ITGA2B-related disorder	Reviewed By Expert Panel	CA8603182	rs_780786843	7 SubmittersRCV000425256 RCV001225257 RCV002244886 RCV004551447
NM_000419.5(ITGA2B):c.2094+2T>C	SNV Germline	Chr17:44378360	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399799489	rs_1555613692	2 SubmittersRCV000527479
NM_000419.5(ITGA2B):c.1946+1G>A	SNV Germline	Chr17:44378642	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8602901	rs_746091910	2 SubmittersRCV000689591
NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)	SNV Germline	Chr17:44376312	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399796586	rs_1598377051	3 SubmittersRCV000851591
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)	SNV Germline	Chr17:44379795	Pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16	Reviewed By Expert Panel	CA8602942	rs_778608263	5 SubmittersRCV000851720 RCV001268765 RCV003313788 RCV002222626
NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)	SNV Germline	Chr17:44383517	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804315	rs_1214448436	3 SubmittersRCV000852005
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn)	SNV Germline	Chr17:47284514	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA400021939	rs_121918445	3 SubmittersRCV000851787 RCV004798869
NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg)	SNV Germline	Chr17:47286406	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400023678	rs_1598690979	2 SubmittersRCV000851871
NM_000212.3(ITGB3):c.856G>C (p.Gly286Arg)	SNV Germline	Chr17:47287148	Likely pathogenic	Abnormal bleeding Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400024919	rs_1199275720	2 SubmittersRCV000851903 RCV002510970
NM_000419.5(ITGA2B):c.3060+2T>C	SNV Germline	Chr17:44374352	Pathogenic	Abnormal platelet function Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA290944108	rs_74664206	6 SubmittersRCV000852104 RCV001225236 RCV001724151 RCV003327457
NM_000419.5(ITGA2B):c.1211-1G>C	SNV Germline	Chr17:44381062	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399803822	rs_1598380380	2 SubmittersRCV000851671
NM_000419.5(ITGA2B):c.1210+105A>G	SNV Germline	Chr17:44383388	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290953790	rs_992856733	2 SubmittersRCV000851670
NM_000419.5(ITGA2B):c.409-1G>A	SNV Germline	Chr17:44385717	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806056	rs_1393747638	2 SubmittersRCV000851783
NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter)	SNV Germline	Chr17:44380915	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399803529	rs_151179377	1 SubmittersRCV000778499
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys)	SNV Germline	Chr17:47283375	Likely pathogenic	Glanzmann thrombasthenia not specified Condition: not provided	Reviewed By Expert Panel	CA8622892	rs_199866795	3 SubmittersRCV000778500 RCV004800581 RCV006556668
NM_000212.3(ITGB3):c.362-1G>A	SNV Germline	Chr17:47284442	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400021523	rs_1567764299	1 SubmittersRCV000778501
NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)	SNV Germline	Chr17:44380926	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA399803552	rs_1598380253	2 SubmittersRCV000003031 RCV001580161
NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met)	SNV Germline	Chr17:44375716	Conflicting classifications of pathogenicity	Glanzmann thrombasthenia Condition: not provided ITGA2B-related disorder Platelet-type bleeding disorder 16 Glanzmann thrombasthenia 1	Criteria Provided Conflicting Classifications	CA8602633	rs_74988902	7 SubmittersRCV001122396 RCV003424379 RCV004549918 RCV005392469
NM_000212.3(ITGB3):c.727G>C (p.Asp243His)	SNV Germline	Chr17:47286372	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA400023600	rs_1598690937	3 SubmittersRCV000985156 RCV004761848
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)	SNV Germline	Chr17:47284646	Pathogenic	Glanzmann thrombasthenia Condition: not provided Myocardial infarction, susceptibility to Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA291224669	rs_958609406	5 SubmittersRCV001003533 RCV003727835 RCV005021313 RCV004689952
NM_000419.5(ITGA2B):c.998+1G>C	SNV Germline	Chr17:44383893	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804688	rs_1598381778	2 SubmittersRCV001003531
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)	SNV Germline	Chr17:44385711	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806043	rs_2048642260	2 SubmittersRCV001059843
NM_000212.3(ITGB3):c.777+1G>A	SNV Germline	Chr17:47286423	Pathogenic	Condition: not provided Glanzmann thrombasthenia Glanzmann thrombasthenia 2 Myocardial infarction, susceptibility to Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24	Reviewed By Expert Panel	CA8623036	rs_745766760	6 SubmittersRCV001055160 RCV001580245 RCV003152747 RCV005021384
NM_000419.5(ITGA2B):c.375G>A (p.Gly125=)	SNV Germline	Chr17:44385857	Conflicting classifications of pathogenicity	Glanzmann thrombasthenia	Criteria Provided Conflicting Classifications	CA500624275	rs_2048643952	2 SubmittersRCV001126258
NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys)	SNV Germline	Chr17:44374463	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399790180	rs_2048521744	1 SubmittersRCV001225229
NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter)	SNV Germline	Chr17:44374673	Pathogenic	Glanzmann thrombasthenia Platelet-type bleeding disorder 16	Reviewed By Expert Panel	CA8602528	rs_79657230	3 SubmittersRCV001225251 RCV002245883
NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln)	SNV Germline	Chr17:44374738	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399791171	rs_2048524687	1 SubmittersRCV001225228
NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter)	SNV Germline	Chr17:44375647	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8602626	rs_200846140	2 SubmittersRCV001225291
NM_000419.5(ITGA2B):c.2267+1G>T	SNV Germline	Chr17:44377008	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399798124	rs_2048550327	1 SubmittersRCV001225274
NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg)	SNV Germline	Chr17:44377772	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA8602816	rs_77961246	2 SubmittersRCV001225296 RCV002254204
NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter)	SNV Germline	Chr17:44378707	Pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA399801310	rs_1236922680	3 SubmittersRCV001225269 RCV003426003 RCV003313995
NM_000419.5(ITGA2B):c.1753-1G>A	SNV Germline	Chr17:44379815	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399802017	rs_2048578129	1 SubmittersRCV001225272
NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp)	SNV Germline	Chr17:44380103	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399802348	rs_1261397461	2 SubmittersRCV001225283
NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter)	SNV Germline	Chr17:44380136	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399802411	rs_1344768030	1 SubmittersRCV001225266
NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter)	SNV Germline	Chr17:44380142	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA399802424	rs_780837520	2 SubmittersRCV001225292 RCV002254203
NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter)	SNV Germline	Chr17:44380626	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290950376	rs_78218617	1 SubmittersRCV001225302
NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr)	SNV Germline	Chr17:44381058	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA290950815	rs_75622274	2 SubmittersRCV001225235 RCV002280899
NM_000419.5(ITGA2B):c.1028T>C (p.Leu343Pro)	SNV Germline	Chr17:44383675	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804619	rs_1476448476	1 SubmittersRCV001225278
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro)	SNV Germline	Chr17:44384313	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8603305	rs_531610168	2 SubmittersRCV001225237
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg)	SNV Germline	Chr17:44384316	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA8603306	rs_753264426	2 SubmittersRCV001225276 RCV002245885
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu)	SNV Germline	Chr17:44384585	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805147	rs_2048627164	2 SubmittersRCV001225247
NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter)	SNV Germline	Chr17:44385065	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805421	rs_2048632227	1 SubmittersRCV001225293
NM_000419.5(ITGA2B):c.624+2C>A	SNV Germline	Chr17:44385284	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805557	rs_2048635467	2 SubmittersRCV001225245
NM_000419.5(ITGA2B):c.574+5G>C	SNV Germline	Chr17:44385546	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA913203563	rs_1598383011	1 SubmittersRCV001225230
NM_000419.5(ITGA2B):c.555T>G (p.Ile185Met)	SNV Germline	Chr17:44385570	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805736	rs_2048639927	2 SubmittersRCV001225226
NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu)	SNV Germline	Chr17:44385598	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805789	rs_148327798	1 SubmittersRCV001225250
NM_000419.5(ITGA2B):c.527C>A (p.Pro176His)	SNV Germline	Chr17:44385598	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8603447	rs_148327798	1 SubmittersRCV001225246
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala)	SNV Germline	Chr17:44385599	Pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA399805793	rs_2048640485	4 SubmittersRCV002245882 RCV001225231 RCV001796397
NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg)	SNV Germline	Chr17:44385645	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA399805892	rs_1279297832	2 SubmittersRCV001225258 RCV002280900
NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro)	SNV Germline	Chr17:44386063	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA290956162	rs_1052533574	2 SubmittersRCV001225273 RCV004782674
NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val)	SNV Germline	Chr17:44389343	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806881	rs_2048678209	1 SubmittersRCV001225268
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg)	SNV Germline	Chr17:47253892	Pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 2 Myocardial infarction, susceptibility to Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24	Reviewed By Expert Panel	CA291240306	rs_1022839092	4 SubmittersRCV001225262 RCV001360644 RCV004587079 RCV005021540
NM_000212.3(ITGB3):c.79+1G>A	SNV Germline	Chr17:47253941	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Myocardial infarction, susceptibility to Condition: not provided	Reviewed By Expert Panel	CA400028478	rs_2064977538	3 SubmittersRCV001225287 RCV005014259 RCV005094124
NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly)	SNV Germline	Chr17:47274454	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400031666	rs_1880497383	1 SubmittersRCV001225279
NM_000212.3(ITGB3):c.448A>G (p.Met150Val)	SNV Germline	Chr17:47284529	Likely pathogenic	Glanzmann thrombasthenia Bleeding disorder, platelet-type, 24 Glanzmann thrombasthenia 1 Glanzmann thrombasthenia 2 Condition: not provided	Reviewed By Expert Panel	CA8622961	rs_767548512	3 SubmittersRCV001225290 RCV002280901 RCV002254202 RCV002281175 RCV003558758
NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter)	SNV Germline	Chr17:47284586	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA291224658	rs_1038392991	2 SubmittersRCV001225299 RCV004561999
NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser)	SNV Germline	Chr17:47286274	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400023389	rs_2065102210	1 SubmittersRCV001225284
NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter)	SNV Germline	Chr17:47287169	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400025022	rs_1193381168	1 SubmittersRCV001225285
NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp)	SNV Germline	Chr17:47292336	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400029369	rs_1255017270	1 SubmittersRCV001225244
NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg)	SNV Germline	Chr17:47292472	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400029953	rs_1397448267	1 SubmittersRCV001225242
NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr)	SNV Germline	Chr17:47292473	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400029958	rs_2065130922	1 SubmittersRCV001225239
NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg)	SNV Germline	Chr17:47299319	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400032350	rs_2065157102	1 SubmittersRCV001225240
NM_000212.3(ITGB3):c.1913+5G>T	SNV Germline	Chr17:47299535	Likely pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 2 Myocardial infarction, susceptibility to Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24	Reviewed By Expert Panel	CA8623377	rs_764779088	5 SubmittersRCV001225277 RCV003558756 RCV005866875 RCV005014258
NM_000212.3(ITGB3):c.2014+1G>A	SNV Germline	Chr17:47300579	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400033055	rs_2065163860	1 SubmittersRCV001225241
NM_000419.5(ITGA2B):c.671-1G>A	SNV Germline	Chr17:44385077	Likely pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA399805445	rs_2048632400	1 SubmittersRCV001226571
NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys)	SNV Germline	Chr17:44376089	Likely pathogenic	Glanzmann thrombasthenia Gastric cancer	Reviewed By Expert Panel	CA399795789	rs_2048541187	3 SubmittersRCV001254666 RCV005909229
NM_000419.5(ITGA2B):c.1752+2T>C	SNV Germline	Chr17:44380000	Pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA8602969	rs_769156315	5 SubmittersRCV001254665 RCV001268766 RCV003339566
NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp)	SNV Germline	Chr17:44380911	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399803524	rs_2048591163	2 SubmittersRCV001254664
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val)	SNV Germline	Chr17:44385649	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805900	rs_2048641442	2 SubmittersRCV001254663
NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter)	SNV Germline	Chr17:47292519	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA400030168	rs_185135224	3 SubmittersRCV001254668 RCV004800757
NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp)	SNV Germline	Chr17:47299314	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400032338	rs_2065157059	2 SubmittersRCV001254669
NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe)	SNV Germline	Chr17:44375039	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290946484	rs_77458039	1 SubmittersRCV001290459
NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu)	SNV Germline	Chr17:44375966	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399795351	rs_1166506747	1 SubmittersRCV001290475
NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter)	SNV Germline	Chr17:44377040	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399798321	rs_2048550784	1 SubmittersRCV001290505
NM_000419.5(ITGA2B):c.1879-2A>G	SNV Germline	Chr17:44378712	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290949031	rs_77229108	1 SubmittersRCV001290488
NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter)	SNV Germline	Chr17:44380082	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290949843	rs_74602141	1 SubmittersRCV001290490
NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln)	SNV Germline	Chr17:44380102	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8602986	rs_769405222	1 SubmittersRCV001290504
NM_000419.5(ITGA2B):c.1201G>T (p.Gly401Cys)	SNV Germline	Chr17:44383502	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804280	rs_2048613694	1 SubmittersRCV001290474
NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr)	SNV Germline	Chr17:44383682	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA399804633	rs_2048616842	2 SubmittersRCV001290494 RCV003313793
NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val)	SNV Germline	Chr17:44383930	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804765	rs_2048619898	1 SubmittersRCV001290463
NM_000419.5(ITGA2B):c.961G>T (p.Gly321Trp)	SNV Germline	Chr17:44383931	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804768	rs_2048619921	1 SubmittersRCV001290464
NM_000419.5(ITGA2B):c.799+2T>C	SNV Germline	Chr17:44384946	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805155	rs_1194700242	1 SubmittersRCV001290485
NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser)	SNV Germline	Chr17:44385309	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805612	rs_2048635741	2 SubmittersRCV001290450
NM_000419.5(ITGA2B):c.571T>G (p.Phe191Val)	SNV Germline	Chr17:44385554	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805699	rs_2048639566	1 SubmittersRCV001290465
NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter)	SNV Germline	Chr17:44385594	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290955739	rs_79713558	1 SubmittersRCV001290489
NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter)	SNV Germline	Chr17:44386054	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA399806384	rs_2048646082	2 SubmittersRCV001290479 RCV002254212
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter)	SNV Germline	Chr17:47274439	Pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Myocardial infarction, susceptibility to	Reviewed By Expert Panel	CA8622852	rs_75427428	5 SubmittersRCV001290487 RCV003558799 RCV005014336
NM_000212.3(ITGB3):c.166-2A>G	SNV Germline	Chr17:47283352	Pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA291224483	rs_75354240	2 SubmittersRCV001290480 RCV003558798
NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter)	SNV Germline	Chr17:47283450	Pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA400020703	rs_1399113954	3 SubmittersRCV001290503 RCV003558800
NM_000212.3(ITGB3):c.353T>A (p.Leu118His)	SNV Germline	Chr17:47283541	Likely pathogenic	Glanzmann thrombasthenia ITGB3-related disorder Myocardial infarction, susceptibility to Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 not specified Condition: not provided	Reviewed By Expert Panel	CA291224511	rs_368325996	5 SubmittersRCV001290460 RCV003393952 RCV005014333 RCV005057219 RCV004699276
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg)	SNV Germline	Chr17:47284512	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2 Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Myocardial infarction, susceptibility to	Reviewed By Expert Panel	CA291224645	rs_77963874	4 SubmittersRCV001290482 RCV002222693 RCV005014335
NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys)	SNV Germline	Chr17:47286292	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA400023432	rs_2065102310	2 SubmittersRCV001290496 RCV002222694
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)	SNV Germline	Chr17:47286310	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1 Condition: not provided Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA291224887	rs_79208797	5 SubmittersRCV001290457 RCV002254211 RCV003558796 RCV005236768
NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter)	SNV Germline	Chr17:47286369	Pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA400023596	rs_758633284	3 SubmittersRCV001290458 RCV003558797
NM_000212.3(ITGB3):c.760C>A (p.Gln254Lys)	SNV Germline	Chr17:47286405	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400023674	rs_2065102917	1 SubmittersRCV001290469
NM_000212.3(ITGB3):c.940-2A>G	SNV Germline	Chr17:47289679	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400025605	rs_2065117719	1 SubmittersRCV001290484
NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr)	SNV Germline	Chr17:47289681	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400025612	rs_2065117726	1 SubmittersRCV001290470
NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala)	SNV Germline	Chr17:47289682	Likely pathogenic	Glanzmann thrombasthenia Inborn genetic diseases	Reviewed By Expert Panel	CA400025615	rs_2065117736	2 SubmittersRCV001290453 RCV005652586
NM_000212.3(ITGB3):c.1260G>A (p.Thr420=)	SNV Germline	Chr17:47291088	Likely pathogenic	Glanzmann thrombasthenia Condition: not provided Cervical cancer	Reviewed By Expert Panel	CA8623200	rs_74458693	3 SubmittersRCV001290478 RCV003546696 RCV005910915
NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser)	SNV Germline	Chr17:47292524	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400030198	rs_1395325049	1 SubmittersRCV001290468
NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly)	SNV Germline	Chr17:47299418	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400032570	rs_747534508	1 SubmittersRCV001290476
NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr)	SNV Germline	Chr17:47299488	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400032726	rs_1181336139	1 SubmittersRCV001290456
NM_000212.3(ITGB3):c.1913+1G>A	SNV Germline	Chr17:47299531	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400032825	rs_2065158302	1 SubmittersRCV001290473
NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe)	SNV Germline	Chr17:44383907	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1 Condition: not provided	Reviewed By Expert Panel	CA399804719	rs_2048619428	4 SubmittersRCV001332427 RCV004762095 RCV006279599
NM_000419.5(ITGA2B):c.2602-2A>G	SNV Germline	Chr17:44375718	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399793915	rs_2143436505	2 SubmittersRCV001580239
NM_000419.5(ITGA2B):c.2348+5G>C	SNV Germline	Chr17:44376303	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290947484	rs_776442328	1 SubmittersRCV001580222
NM_000419.5(ITGA2B):c.2063C>T (p.Ala688Val)	SNV Germline	Chr17:44378393	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399799766	rs_1245816431	1 SubmittersRCV001580230
NM_000419.5(ITGA2B):c.2029G>A (p.Glu677Lys)	SNV Germline	Chr17:44378427	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399800002	rs_2143450843	1 SubmittersRCV001580215
NM_000419.5(ITGA2B):c.1233C>A (p.Tyr411Ter)	SNV Germline	Chr17:44381039	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399803781	rs_779910477	1 SubmittersRCV001580257
NM_000419.5(ITGA2B):c.1210+5G>A	SNV Germline	Chr17:44383488	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA915940251	rs_2143475577	1 SubmittersRCV001580234
NM_000419.5(ITGA2B):c.1051C>T (p.Arg351Ter)	SNV Germline	Chr17:44383652	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290954030	rs_1032879686	1 SubmittersRCV001580228
NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp)	SNV Germline	Chr17:44384345	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805011	rs_2143480810	1 SubmittersRCV001580263
NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile)	SNV Germline	Chr17:44384543	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805055	rs_2143481657	1 SubmittersRCV001580226
NM_000419.5(ITGA2B):c.800-2A>G	SNV Germline	Chr17:44384587	Likely pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA399805152	rs_2143481938	2 SubmittersRCV001580237 RCV004762163
NM_000419.5(ITGA2B):c.647C>T (p.Ala216Val)	SNV Germline	Chr17:44385187	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805506	rs_2143485154	1 SubmittersRCV001580219
NM_000419.5(ITGA2B):c.641T>G (p.Leu214Arg)	SNV Germline	Chr17:44385193	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805518	rs_137852911	1 SubmittersRCV001580255
NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter)	SNV Germline	Chr17:44385567	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA399805728	rs_1416238665	2 SubmittersRCV001580241 RCV003989698
NM_000419.5(ITGA2B):c.416C>T (p.Ala139Val)	SNV Germline	Chr17:44385709	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806036	rs_2143489510	1 SubmittersRCV001580238
NM_000212.3(ITGB3):c.392G>C (p.Arg131Pro)	SNV Germline	Chr17:47284473	Likely pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA8622954	rs_201806801	2 SubmittersRCV001580244 RCV003546709
NM_000212.3(ITGB3):c.614+1G>T	SNV Germline	Chr17:47284696	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400023344	rs_2065096678	1 SubmittersRCV001580218
NM_000212.3(ITGB3):c.728A>T (p.Asp243Val)	SNV Germline	Chr17:47286373	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400023604	rs_2143097053	1 SubmittersRCV001580220
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter)	SNV Germline	Chr17:47286419	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA400023704	rs_2143097219	2 SubmittersRCV001580213 RCV002254214
NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser)	SNV Germline	Chr17:47289772	Likely pathogenic	Glanzmann thrombasthenia Condition: not provided Myocardial infarction, susceptibility to Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24	Reviewed By Expert Panel	CA400025814	rs_2065118116	3 SubmittersRCV001580247 RCV002573261 RCV005014597
NM_000212.3(ITGB3):c.1031A>G (p.Tyr344Cys)	SNV Germline	Chr17:47289772	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400025816	rs_2065118116	1 SubmittersRCV001580246
NM_000212.3(ITGB3):c.1094A>G (p.Asn365Ser)	SNV Germline	Chr17:47290243	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400026292	rs_2143107081	1 SubmittersRCV001580232
NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg)	SNV Germline	Chr17:47299418	Pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA8623361	rs_747534508	3 SubmittersRCV001580240 RCV003558843 RCV004801041
NM_000212.3(ITGB3):c.2080C>T (p.Gln694Ter)	SNV Germline	Chr17:47302786	Pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA400033218	rs_2143138190	2 SubmittersRCV001580261 RCV003558844
NM_000212.3(ITGB3):c.2302-1G>A	SNV Germline	Chr17:47310138	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400034626	rs_2143158065	1 SubmittersRCV001580256
NM_000212.3(ITGB3):c.1495T>C (p.Cys499Arg)	SNV Germline	Chr17:47292373	Likely pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA400029525	rs_2143113460	2 SubmittersRCV001803403 RCV003728010
NM_000212.3(ITGB3):c.917A>C (p.His306Pro)	SNV Germline	Chr17:47287209	Likely pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA291224999	rs_13306476	2 SubmittersRCV001803404 RCV003560851
NM_000212.3(ITGB3):c.1288C>T (p.Arg430Ter)	SNV Germline	Chr17:47292166	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400028591	rs_1458116788	1 SubmittersRCV001803407
NM_000419.5(ITGA2B):c.620C>T (p.Thr207Ile)	SNV Germline	Chr17:44385290	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805570	rs_2143485911	1 SubmittersRCV001803410
NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter)	SNV Germline	Chr17:44374461	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399790170	rs_2143427792	1 SubmittersRCV001803413
NM_000212.3(ITGB3):c.1736G>A (p.Trp579Ter)	SNV Germline	Chr17:47299353	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400032429	rs_2143129828	1 SubmittersRCV001803417
NM_000419.5(ITGA2B):c.1993C>T (p.Gln665Ter)	SNV Germline	Chr17:44378463	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399801004	rs_1472992102	1 SubmittersRCV001803421
NM_000419.5(ITGA2B):c.432G>A (p.Trp144Ter)	SNV Germline	Chr17:44385693	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805999	rs_2143489377	1 SubmittersRCV001803423
NM_000212.3(ITGB3):c.892C>T (p.Gln298Ter)	SNV Germline	Chr17:47287184	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400025098	rs_2065105940	1 SubmittersRCV001803425
NM_000212.3(ITGB3):c.2147G>T (p.Gly716Val)	SNV Germline	Chr17:47307483	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400033923	rs_1205019601	1 SubmittersRCV001803426
NM_000212.3(ITGB3):c.1980C>A (p.Tyr660Ter)	SNV Germline	Chr17:47300544	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400032983	rs_777913442	1 SubmittersRCV001803427
NM_000212.3(ITGB3):c.842A>C (p.His281Pro)	SNV Germline	Chr17:47287134	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400024802	rs_2143098907	1 SubmittersRCV001803428
NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter)	SNV Germline	Chr17:47292280	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA400029121	rs_2143112940	2 SubmittersRCV001803431 RCV003339746
NM_000212.3(ITGB3):c.856G>A (p.Gly286Arg)	SNV Germline	Chr17:47287148	Pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA400024922	rs_1199275720	2 SubmittersRCV001803432 RCV003560852
NM_000212.3(ITGB3):c.361+1G>A	SNV Germline	Chr17:47283550	Pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA400021329	rs_2143090512	2 SubmittersRCV001803433 RCV005057624
NM_000419.5(ITGA2B):c.574+1G>A	SNV Germline	Chr17:44385550	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805691	rs_1291613591	1 SubmittersRCV001803435
NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile)	SNV Germline	Chr17:44377713	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399798895	rs_2143447323	1 SubmittersRCV001803436
NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly)	SNV Germline	Chr17:44384573	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805123	rs_2143481840	1 SubmittersRCV001803437
NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys)	SNV Germline	Chr17:44385175	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805484	rs_1355838837	1 SubmittersRCV001803438
NM_000419.5(ITGA2B):c.625-1G>A	SNV Germline	Chr17:44385210	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805552	rs_2143485431	1 SubmittersRCV001803439
NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter)	SNV Germline	Chr17:44376112	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399796017	rs_2143439415	1 SubmittersRCV001803440
NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter)	SNV Germline	Chr17:47287213	Pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA400025209	rs_2143099209	2 SubmittersRCV001803442 RCV004728822
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter)	SNV Germline	Chr17:47284525	Pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400021992	rs_887221055	2 SubmittersRCV002245360 RCV004577562
NM_000419.5(ITGA2B):c.2095-19T>A	SNV Germline	Chr17:44377809	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA915940312	rs_2143447856	1 SubmittersRCV002254790
NM_000212.3(ITGB3):c.2014+5G>A	SNV Germline	Chr17:47300583	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA915940701	rs_2143133455	1 SubmittersRCV002254792
NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn)	SNV Germline	Chr17:44376096	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399795907	rs_1196551352	1 SubmittersRCV002254793
NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn)	SNV Germline	Chr17:47289730	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400025722	rs_2143105830	1 SubmittersRCV002254794
NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp)	SNV Germline	Chr17:47299431	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400032596	rs_2143130130	1 SubmittersRCV002254796
NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter)	SNV Germline	Chr17:44383935	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804780	rs_2143478260	1 SubmittersRCV002254798
NM_000419.5(ITGA2B):c.1259T>C (p.Val420Ala)	SNV Germline	Chr17:44381013	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399803733	rs_2048592296	1 SubmittersRCV002254801
NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=)	SNV Germline	Chr17:44374354	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA500261104	rs_757268030	1 SubmittersRCV002254806
NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter)	SNV Germline	Chr17:44375069	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399792054	rs_2143432066	1 SubmittersRCV002254810
NM_000212.3(ITGB3):c.1641C>G (p.Cys547Trp)	SNV Germline	Chr17:47292519	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400030171	rs_185135224	1 SubmittersRCV002254811
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro)	SNV Germline	Chr17:44377735	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1	Reviewed By Expert Panel	CA399799004	rs_2143447451	2 SubmittersRCV002254812 RCV002280917
NM_000419.5(ITGA2B):c.408G>C (p.Val136=)	SNV Germline	Chr17:44385824	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA500624244	rs_1400938437	2 SubmittersRCV002254813
NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys)	SNV Germline	Chr17:47284503	Pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA400021881	rs_1739770567	3 SubmittersRCV002254817 RCV003560900 RCV003987989
NM_000212.3(ITGB3):c.415G>C (p.Asp139His)	SNV Germline	Chr17:47284496	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400021843	rs_2143092554	1 SubmittersRCV002254818
NM_000419.5(ITGA2B):c.423G>T (p.Trp141Cys)	SNV Germline	Chr17:44385702	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806022	rs_2143489430	1 SubmittersRCV002254819
NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter)	SNV Germline	Chr17:44375856	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399794330	rs_2143437407	1 SubmittersRCV002254821
NM_000212.3(ITGB3):c.1388G>C (p.Cys463Ser)	SNV Germline	Chr17:47292266	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400029054	rs_2143112826	1 SubmittersRCV002254822
NM_000419.5(ITGA2B):c.188G>A (p.Arg63Lys)	SNV Germline	Chr17:44389286	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8603528	rs_767688038	1 SubmittersRCV002254825
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter)	SNV Germline	Chr17:47292187	Pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8623244	rs_754250394	2 SubmittersRCV002264879 RCV004577564
NM_000419.5(ITGA2B):c.800-1G>A	SNV Germline	Chr17:44384586	Likely pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia	Criteria Provided Multiple Submitters No Conflicts	CA8603333	rs_754740619	2 SubmittersRCV002281023 RCV006470414
NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)	SNV Germline	Chr17:44385895	Pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806223	rs_2510085242	2 SubmittersRCV002281026 RCV002511149
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)	SNV Germline	Chr17:44389415	Likely pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399807023	rs_2048679372	2 SubmittersRCV002281028 RCV002511150
NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)	SNV Germline	Chr17:44381043	Conflicting classifications of pathogenicity	Glanzmann thrombasthenia 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA399803787	rs_773649547	2 SubmittersRCV002281029 RCV005585144
NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg)	SNV Germline	Chr17:47253940	Conflicting classifications of pathogenicity	Glanzmann thrombasthenia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA291240434	rs_1037047731	2 SubmittersRCV002281034 RCV005096021
NM_000419.5(ITGA2B):c.1545-1G>A	SNV Germline	Chr17:44380302	Pathogenic	Glanzmann thrombasthenia 1 Glanzmann thrombasthenia Platelet-type bleeding disorder 16	Reviewed By Expert Panel	CA8603039	rs_773464534	3 SubmittersRCV002466786 RCV002511169 RCV003340494
NM_000212.3(ITGB3):c.863T>C (p.Leu288Pro)	SNV Germline	Chr17:47287155	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400024958	rs_2547617068	1 SubmittersRCV002511510
NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter)	SNV Germline	Chr17:44380255	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399802478	rs_1175814929	1 SubmittersRCV002511514
NM_000212.3(ITGB3):c.1525C>T (p.Gln509Ter)	SNV Germline	Chr17:47292403	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400029664	rs_2143113586	1 SubmittersRCV002511518
NM_000419.5(ITGA2B):c.953C>T (p.Ser318Leu)	SNV Germline	Chr17:44383939	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804787	rs_2510082649	1 SubmittersRCV002511519
NM_000212.3(ITGB3):c.121C>T (p.Gln41Ter)	SNV Germline	Chr17:47274460	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400031690	rs_2547613560	1 SubmittersRCV002511528
NM_000419.5(ITGA2B):c.48G>A (p.Trp16Ter)	SNV Germline	Chr17:44389426	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399807046	rs_2143507207	1 SubmittersRCV002511531
NM_000212.3(ITGB3):c.1595G>T (p.Cys532Phe)	SNV Germline	Chr17:47292473	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400029961	rs_2065130922	1 SubmittersRCV002511533
NM_000419.5(ITGA2B):c.475G>A (p.Gly159Ser)	SNV Germline	Chr17:44385650	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8603454	rs_773089115	1 SubmittersRCV002511534
NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter)	SNV Germline	Chr17:44380283	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA290950094	rs_74857210	1 SubmittersRCV002511535
NM_000419.5(ITGA2B):c.3061-1G>A	SNV Germline	Chr17:44372424	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399787972	rs_2510070789	1 SubmittersRCV002511538
NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter)	SNV Germline	Chr17:44380291	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399802559	rs_2510079586	1 SubmittersRCV002511539
NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter)	SNV Germline	Chr17:47274457	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400031679	rs_2547613559	1 SubmittersRCV002511542
NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser)	SNV Germline	Chr17:47299430	Likely pathogenic	Glanzmann thrombasthenia Myocardial infarction, susceptibility to Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Condition: not provided Glanzmann thrombasthenia 2	Reviewed By Expert Panel	CA291227621	rs_144884023	5 SubmittersRCV002511543 RCV005019223 RCV005096992 RCV005860313
NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln)	SNV Germline	Chr17:47286370	Pathogenic	Glanzmann thrombasthenia Condition: not provided Glanzmann thrombasthenia 2 Myocardial infarction, susceptibility to Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24	Reviewed By Expert Panel	CA291224896	rs_377162158	5 SubmittersRCV002511544 RCV003561061 RCV004690302 RCV005019224
NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly)	SNV Germline	Chr17:47292517	Pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA291225782	rs_902952044	2 SubmittersRCV002511546 RCV003493963
NM_000212.3(ITGB3):c.1303G>T (p.Glu435Ter)	SNV Germline	Chr17:47292181	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400028645	rs_2065129084	1 SubmittersRCV002511548
NM_000419.5(ITGA2B):c.2255T>G (p.Leu752Arg)	SNV Germline	Chr17:44377021	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399798192	rs_2510075915	1 SubmittersRCV002511550
NM_000419.5(ITGA2B):c.1096C>T (p.Arg366Ter)	SNV Germline	Chr17:44383607	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804480	rs_2048615415	1 SubmittersRCV002511552
NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter)	SNV Germline	Chr17:44375616	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399792888	rs_2048534441	1 SubmittersRCV002511559
NM_000419.5(ITGA2B):c.1600+1G>A	SNV Germline	Chr17:44380245	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399802454	rs_1389409325	1 SubmittersRCV002511564
NM_000419.5(ITGA2B):c.97A>G (p.Asn33Asp)	SNV Germline	Chr17:44389377	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806951	rs_2510088109	1 SubmittersRCV002511566
NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)	SNV Germline	Chr17:44385603	Pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA399805800	rs_2048640591	1 SubmittersRCV002716720
NM_000419.5(ITGA2B):c.1946+2T>G	SNV Germline	Chr17:44378641	Likely pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA399801099	rs_2143452148	1 SubmittersRCV003041017
NM_000212.3(ITGB3):c.615-1G>A	SNV Unknown	Chr17:47286259	Pathogenic	Glanzmann thrombasthenia 2	Criteria Provided Single Submitter	CA400023351	rs_1373910050	1 SubmittersRCV003153134
NM_000419.5(ITGA2B):c.310+1G>A	SNV Germline	Chr17:44386009	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8603502	rs_776820510	1 SubmittersRCV003222556
NM_000212.3(ITGB3):c.655G>A (p.Val219Met)	SNV Germline	Chr17:47286300	Likely pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA8623016	rs_747116356	2 SubmittersRCV003222557 RCV003561238
NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter)	SNV Germline	Chr17:44374661	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399790399	rs_2510072662	1 SubmittersRCV003222558
NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter)	SNV Germline	Chr17:47292354	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400029436	rs_2143113385	1 SubmittersRCV003222559
NM_000419.5(ITGA2B):c.470C>A (p.Pro157His)	SNV Germline	Chr17:44385655	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805912	rs_2510084880	1 SubmittersRCV003222563
NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter)	SNV Germline	Chr17:47287084	Pathogenic	Glanzmann thrombasthenia Condition: not provided	Reviewed By Expert Panel	CA400024376	rs_1442321434	2 SubmittersRCV003222565 RCV003561240
NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn)	SNV Germline	Chr17:44380293	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA8603038	rs_767588159	1 SubmittersRCV003222567
NM_000419.5(ITGA2B):c.1946+3G>T	SNV Germline	Chr17:44378640	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 1 Lung cancer	Reviewed By Expert Panel	CA626121071	rs_1182502058	4 SubmittersRCV003222569 RCV003388176 RCV005927300
NM_000212.3(ITGB3):c.1990G>T (p.Glu664Ter)	SNV Germline	Chr17:47300554	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400033003	rs_373150039	1 SubmittersRCV003222573
NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter)	SNV Germline	Chr17:44374420	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399789759	rs_2510072374	1 SubmittersRCV003222574
NM_000419.5(ITGA2B):c.520T>C (p.Tyr174His)	SNV Germline	Chr17:44385605	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399805805	rs_2048640612	1 SubmittersRCV003222576
NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg)	SNV Germline	Chr17:47299340	Pathogenic	Glanzmann thrombasthenia 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400032399	rs_2547621015	2 SubmittersRCV003236384 RCV005102484
NM_000419.5(ITGA2B):c.2449-1G>C	SNV Germline	Chr17:44375986	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399795582	rs_2510074785	1 SubmittersRCV003234989
NM_000419.5(ITGA2B):c.1429G>C (p.Ala477Pro)	SNV Germline	Chr17:44380610	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399803370	rs_2510080068	1 SubmittersRCV003234990
NM_000212.3(ITGB3):c.646T>C (p.Tyr216His)	SNV Germline	Chr17:47286291	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400023428	rs_2547616779	1 SubmittersRCV003234995
NM_000419.5(ITGA2B):c.212C>G (p.Pro71Arg)	SNV Germline	Chr17:44386108	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806497	rs_2510085546	1 SubmittersRCV003234996
NM_000212.3(ITGB3):c.2301+1G>C	SNV Germline	Chr17:47307638	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA400034479	rs_2547623841	1 SubmittersRCV003234997
NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu)	SNV Germline	Chr17:44385833	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399806084	rs_2510085154	1 SubmittersRCV003234998
NM_000419.5(ITGA2B):c.1642C>T (p.Gln548Ter)	SNV Germline	Chr17:44380112	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399802364	rs_2510079291	1 SubmittersRCV003235000
NM_000419.5(ITGA2B):c.959T>C (p.Phe320Ser)	SNV Germline	Chr17:44383933	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399804774	rs_2510082644	1 SubmittersRCV003330341
NM_000419.5(ITGA2B):c.1947-2A>G	SNV Germline	Chr17:44378511	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel	CA399801096	rs_2510077579	1 SubmittersRCV003330346
NM_000212.3(ITGB3):c.2301+5G>A	SNV Germline	Chr17:47307642	Conflicting classifications of pathogenicity	Condition: not provided Glanzmann thrombasthenia 2	Criteria Provided Conflicting Classifications	CA2582342191	rs_2547623844	2 SubmittersRCV003332912 RCV004798980
NM_000419.5(ITGA2B):c.3077G>T (p.Arg1026Leu)	SNV Germline	Chr17:44372407	Conflicting classifications of pathogenicity	ITGA2B-related disorder Glanzmann thrombasthenia	Criteria Provided Conflicting Classifications	CA399787855	rs_879255514	2 SubmittersRCV004550572 RCV006472640
NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)	SNV Germline	Chr17:44380883	Pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA399803464	rs_148618973	1 SubmittersRCV003606210
NM_000419.5(ITGA2B):c.2336T>C (p.Val779Ala)	SNV Germline	Chr17:44376320	Likely pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA8602732	rs_764819935	1 SubmittersRCV003606688
NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)	SNV Germline	Chr17:44383547	Pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA290953888	rs_556258793	1 SubmittersRCV003606751
NM_000212.3(ITGB3):c.939+1G>T	SNV Germline	Chr17:47287232	Likely pathogenic	Condition: not provided Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24 Myocardial infarction, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA291225004	rs_987869733	2 SubmittersRCV003720246 RCV005014897
NM_000419.5(ITGA2B):c.670G>A (p.Gly224Ser)	SNV Germline	Chr17:44385164	Pathogenic	Glanzmann thrombasthenia 1	Criteria Provided Single Submitter	CA399805456	rs_2510083991	1 SubmittersRCV004006261
NM_000419.5(ITGA2B):c.189-1G>C	SNV Germline	Chr17:44386132	Likely pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA399806548	rs_1369462778	1 SubmittersRCV004018190
NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)	SNV Germline	Chr17:47302791	Likely pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA400033232	rs_373450805	1 SubmittersRCV004018191
NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)	SNV Germline	Chr17:44385319	Likely pathogenic	Glanzmann thrombasthenia	Criteria Provided Single Submitter	CA399805637	rs_1210788594	1 SubmittersRCV004018240
NM_000419.5(ITGA2B):c.605T>G (p.Phe202Cys)	SNV Germline	Chr17:44385305	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel		rs_2510084207	1 SubmittersRCV004577678
NM_000212.3(ITGB3):c.428T>C (p.Leu143Ser)	SNV Germline	Chr17:47284509	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel		rs_121918452	1 SubmittersRCV004577679
NM_000212.3(ITGB3):c.1815C>T (p.Gly605=)	SNV Germline	Chr17:47299432	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel		rs_2547621060	1 SubmittersRCV004577680
NM_000212.3(ITGB3):c.1431C>T (p.Gly477=)	SNV Germline	Chr17:47292309	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel		rs_2547619081	1 SubmittersRCV004577681
NM_000419.5(ITGA2B):c.2828C>T (p.Pro943Leu)	SNV Germline	Chr17:44375011	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel		rs_2510073184	1 SubmittersRCV004577682
NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter)	SNV Germline	Chr17:47307558	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel		rs_2547623783	1 SubmittersRCV004577683
NM_000419.5(ITGA2B):c.1423C>T (p.Gln475Ter)	SNV Germline	Chr17:44380616	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel		rs_2048587538	1 SubmittersRCV004577685
NM_000212.3(ITGB3):c.1448G>A (p.Cys483Tyr)	SNV Germline	Chr17:47292326	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel		rs_2547619090	1 SubmittersRCV004577686
NM_000212.3(ITGB3):c.563C>T (p.Ser188Leu)	SNV Germline	Chr17:47284644	Likely pathogenic	Glanzmann thrombasthenia Glanzmann thrombasthenia 2 Bleeding disorder, platelet-type, 24	Reviewed By Expert Panel		rs_143146734	2 SubmittersRCV004577691 RCV005392823
NM_000212.3(ITGB3):c.1801T>A (p.Cys601Ser)	SNV Germline	Chr17:47299418	Pathogenic	Glanzmann thrombasthenia 2	Criteria Provided Single Submitter			1 SubmittersRCV004702727
NM_000419.5(ITGA2B):c.188+1G>A	SNV Germline	Chr17:44389285	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel			1 SubmittersRCV004819033
NM_000419.5(ITGA2B):c.1355T>G (p.Leu452Arg)	SNV Germline	Chr17:44380917	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel			1 SubmittersRCV004819035
NM_000419.5(ITGA2B):c.989A>T (p.Asn330Ile)	SNV Germline	Chr17:44383903	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel			1 SubmittersRCV004819036
NM_000419.5(ITGA2B):c.575-2A>T	SNV Germline	Chr17:44385337	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel			1 SubmittersRCV004819039
NM_000419.5(ITGA2B):c.2935G>T (p.Glu979Ter)	SNV Germline	Chr17:44374667	Likely pathogenic	Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16	Criteria Provided Single Submitter			1 SubmittersRCV005020383
NM_000419.5(ITGA2B):c.2841+13G>A	SNV Germline	Chr17:44374985	Conflicting classifications of pathogenicity	Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16 Glanzmann thrombasthenia	Criteria Provided Conflicting Classifications			2 SubmittersRCV005012239 RCV006617374
NM_000419.5(ITGA2B):c.879G>A (p.Trp293Ter)	SNV Germline	Chr17:44384323	Likely pathogenic	Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16	Criteria Provided Single Submitter			1 SubmittersRCV005012240
NM_000419.5(ITGA2B):c.517G>T (p.Glu173Ter)	SNV Germline	Chr17:44385608	Likely pathogenic	Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16	Criteria Provided Single Submitter			1 SubmittersRCV005012241
NM_000212.3(ITGB3):c.1260+9G>A	SNV Germline	Chr17:47291097	Likely pathogenic	Glanzmann thrombasthenia 2	Criteria Provided Single Submitter			1 SubmittersRCV005215803
NM_000419.5(ITGA2B):c.1444C>T (p.Gln482Ter)	SNV Germline	Chr17:44380486	Likely pathogenic	Glanzmann thrombasthenia 1	Criteria Provided Single Submitter			1 SubmittersRCV005234886
NM_000212.3(ITGB3):c.1552C>T (p.Gln518Ter)	SNV Germline	Chr17:47292430	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel			1 SubmittersRCV005252101
NM_000419.5(ITGA2B):c.797G>A (p.Trp266Ter)	SNV Germline	Chr17:44384950	Likely pathogenic	Glanzmann thrombasthenia 1 Platelet-type bleeding disorder 16 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005398133 RCV006251496
NM_000212.3(ITGB3):c.432G>A (p.Met144Ile)	SNV Germline	Chr17:47284513	Likely pathogenic	Glanzmann thrombasthenia 2	Criteria Provided Single Submitter			1 SubmittersRCV005625090
NM_000419.5(ITGA2B):c.2822G>A (p.Trp941Ter)	SNV Germline	Chr17:44375017	Pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel			1 SubmittersRCV005649309
NM_000212.3(ITGB3):c.450G>A (p.Met150Ile)	SNV Germline	Chr17:47284531	Likely pathogenic	Glanzmann thrombasthenia	Reviewed By Expert Panel			1 SubmittersRCV005649310
NM_000419.5(ITGA2B):c.2349-19G>A	SNV Germline	Chr17:44376203	Likely pathogenic	Glanzmann thrombasthenia 1	Criteria Provided Single Submitter			1 SubmittersRCV005859912
NM_000212.3(ITGB3):c.1591C>T (p.Gln531Ter)	SNV Germline	Chr17:47292469	Pathogenic	Glanzmann thrombasthenia 2	Criteria Provided Single Submitter			1 SubmittersRCV006460997

NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)

SNV
Germline

Chr17:44380004

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia 1
Condition: not provided

Reviewed By Expert Panel

CA115834

rs_137852906

6 SubmittersRCV000003026 RCV001580165 RCV004795368 RCV005644470

NM_000419.5(ITGA2B):c.2602-3C>G

SNV
Germline

Chr17:44375719

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA10575472

rs_763330792

3 SubmittersRCV000003027 RCV001580164

NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp)

SNV
Germline

Chr17:44384567

Likely pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA115837

rs_137852907

2 SubmittersRCV000003028 RCV001580249

NM_000419.5(ITGA2B):c.1544+1G>A

SNV
Germline

Chr17:44380385

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA10575473

rs_879255509

2 SubmittersRCV000003029 RCV001580163

NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)

SNV
Germline

Chr17:44383630

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA115839

rs_137852908

4 SubmittersRCV000003030 RCV001580162

NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys)

SNV
Germline

Chr17:44383640

Pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA115844

rs_137852910

3 SubmittersRCV000003033 RCV001580264

NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)

SNV
Germline

Chr17:44379780

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
ITGA2B-related disorder
Condition: not provided

Reviewed By Expert Panel

CA115846

rs_76811038

7 SubmittersRCV000003034 RCV001580160 RCV004737134 RCV005429212

NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro)

SNV
Germline

Chr17:44385193

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16
Condition: not provided

Reviewed By Expert Panel

CA115848

rs_137852911

6 SubmittersRCV000003035 RCV001580159 RCV005007810 RCV004719613

NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His)

SNV
Germline

Chr17:44379689

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA115852

rs_80277041

2 SubmittersRCV000003037 RCV001580157

NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)

SNV
Germline

Chr17:47286364

Pathogenic

Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Platelet-type bleeding disorder 16
Condition: not provided
Bleeding disorder, platelet-type, 24
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Myocardial infarction, susceptibility to

Reviewed By Expert Panel

CA123224

rs_121918444

6 SubmittersRCV000014512 RCV001580254 RCV002243642 RCV003137524 RCV005229790 RCV004795409

NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr)

SNV
Germline

Chr17:47284514

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA123226

rs_121918445

2 SubmittersRCV000014513 RCV001374370

NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp)

SNV
Germline

Chr17:47286363

Likely pathogenic

Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Condition: not provided

Reviewed By Expert Panel

CA123228

rs_121918446

6 SubmittersRCV000014514 RCV001580253 RCV002243643 RCV002513046

NM_000212.3(ITGB3):c.165+1G>T

SNV
Germline

Chr17:47274505

Pathogenic

Glanzmann thrombasthenia 2

No Assertion Criteria Provided

CA400031853

rs_2143068731

1 SubmittersRCV000014527

NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr)

SNV
Germline

Chr17:47291027

Pathogenic

Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA123244

rs_121918449

3 SubmittersRCV000014530 RCV001801833 RCV003556015

NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)

SNV
Germline

Chr17:47307584

Pathogenic

Glanzmann thrombasthenia
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia 2
Glanzmann thrombasthenia 1
Condition: not provided
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Myocardial infarction, susceptibility to

Reviewed By Expert Panel

CA123246

rs_121918450

8 SubmittersRCV000014532 RCV001335177 RCV001374371 RCV002243644 RCV003128571 RCV004813040 RCV005016261

NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter)

SNV
Germline

Chr17:47300488

Pathogenic

Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA123249

rs_121918451

4 SubmittersRCV000014533 RCV001801834 RCV001851854

NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp)

SNV
Germline

Chr17:47284509

Pathogenic

Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Condition: not provided
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Myocardial infarction, susceptibility to

Reviewed By Expert Panel

CA123252

rs_121918452

6 SubmittersRCV000014535 RCV001580250 RCV003448246 RCV003736537 RCV005016262

NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)

SNV
Germline/somatic

Chr17:44384949

Likely pathogenic

Condition: not provided
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA229004

rs_483352692

2 SubmittersRCV000087169 RCV002510782

NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)

SNV
Germline

Chr17:44376323

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16
ITGA2B-related disorder

Reviewed By Expert Panel

CA290947544

rs_74475415

6 SubmittersRCV000490428 RCV002254157 RCV004796106 RCV004547508

NM_000419.5(ITGA2B):c.2728-15G>T

SNV
Germline

Chr17:44375126

Conflicting classifications of pathogenicity

Glanzmann thrombasthenia

Criteria Provided
Conflicting Classifications

CA10639811

rs_540296465

2 SubmittersRCV000387815

NM_000419.5(ITGA2B):c.2871G>A (p.Ser957=)

SNV
Germline

Chr17:44374731

Conflicting classifications of pathogenicity

Glanzmann thrombasthenia

Criteria Provided
Conflicting Classifications

CA8602546

rs_759462215

2 SubmittersRCV000334068

NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly)

SNV
Germline

Chr17:47286394

Likely pathogenic

Abnormal bleeding
Prolonged bleeding time
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA16043530

rs_1057518838

2 SubmittersRCV000415046 RCV001197460 RCV003221968

NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter)

SNV
Germline

Chr17:47299316

Pathogenic

Abnormal bleeding
Prolonged bleeding time
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA16043531

rs_1057518837

2 SubmittersRCV000414924 RCV001197459 RCV003221967

NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met)

SNV
Germline

Chr17:44374470

Pathogenic

Condition: not provided
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA16608466

rs_78657866

4 SubmittersRCV000443560 RCV001225295 RCV002225613

NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg)

SNV
Germline

Chr17:44381038

Pathogenic

Condition: not provided
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
ITGA2B-related disorder

Reviewed By Expert Panel

CA8603182

rs_780786843

7 SubmittersRCV000425256 RCV001225257 RCV002244886 RCV004551447

NM_000419.5(ITGA2B):c.2094+2T>C

SNV
Germline

Chr17:44378360

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399799489

rs_1555613692

2 SubmittersRCV000527479

NM_000419.5(ITGA2B):c.1946+1G>A

SNV
Germline

Chr17:44378642

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8602901

rs_746091910

2 SubmittersRCV000689591

NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter)

SNV
Germline

Chr17:44376312

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399796586

rs_1598377051

3 SubmittersRCV000851591

NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala)

SNV
Germline

Chr17:44379795

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16

Reviewed By Expert Panel

CA8602942

rs_778608263

5 SubmittersRCV000851720 RCV001268765 RCV003313788 RCV002222626

NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn)

SNV
Germline

Chr17:44383517

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804315

rs_1214448436

3 SubmittersRCV000852005

NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn)

SNV
Germline

Chr17:47284514

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA400021939

rs_121918445

3 SubmittersRCV000851787 RCV004798869

NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg)

SNV
Germline

Chr17:47286406

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400023678

rs_1598690979

2 SubmittersRCV000851871

NM_000212.3(ITGB3):c.856G>C (p.Gly286Arg)

SNV
Germline

Chr17:47287148

Likely pathogenic

Abnormal bleeding
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400024919

rs_1199275720

2 SubmittersRCV000851903 RCV002510970

NM_000419.5(ITGA2B):c.3060+2T>C

SNV
Germline

Chr17:44374352

Pathogenic

Abnormal platelet function
Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA290944108

rs_74664206

6 SubmittersRCV000852104 RCV001225236 RCV001724151 RCV003327457

NM_000419.5(ITGA2B):c.1211-1G>C

SNV
Germline

Chr17:44381062

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399803822

rs_1598380380

2 SubmittersRCV000851671

NM_000419.5(ITGA2B):c.1210+105A>G

SNV
Germline

Chr17:44383388

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290953790

rs_992856733

2 SubmittersRCV000851670

NM_000419.5(ITGA2B):c.409-1G>A

SNV
Germline

Chr17:44385717

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806056

rs_1393747638

2 SubmittersRCV000851783

NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter)

SNV
Germline

Chr17:44380915

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399803529

rs_151179377

1 SubmittersRCV000778499

NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys)

SNV
Germline

Chr17:47283375

Likely pathogenic

Glanzmann thrombasthenia
not specified
Condition: not provided

Reviewed By Expert Panel

CA8622892

rs_199866795

3 SubmittersRCV000778500 RCV004800581 RCV006556668

NM_000212.3(ITGB3):c.362-1G>A

SNV
Germline

Chr17:47284442

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400021523

rs_1567764299

1 SubmittersRCV000778501

NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp)

SNV
Germline

Chr17:44380926

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA399803552

rs_1598380253

2 SubmittersRCV000003031 RCV001580161

NM_000419.5(ITGA2B):c.2602G>A (p.Val868Met)

SNV
Germline

Chr17:44375716

Conflicting classifications of pathogenicity

Glanzmann thrombasthenia
Condition: not provided
ITGA2B-related disorder
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia 1

Criteria Provided
Conflicting Classifications

CA8602633

rs_74988902

7 SubmittersRCV001122396 RCV003424379 RCV004549918 RCV005392469

NM_000212.3(ITGB3):c.727G>C (p.Asp243His)

SNV
Germline

Chr17:47286372

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA400023600

rs_1598690937

3 SubmittersRCV000985156 RCV004761848

NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser)

SNV
Germline

Chr17:47284646

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Myocardial infarction, susceptibility to
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA291224669

rs_958609406

5 SubmittersRCV001003533 RCV003727835 RCV005021313 RCV004689952

NM_000419.5(ITGA2B):c.998+1G>C

SNV
Germline

Chr17:44383893

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804688

rs_1598381778

2 SubmittersRCV001003531

NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)

SNV
Germline

Chr17:44385711

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806043

rs_2048642260

2 SubmittersRCV001059843

NM_000212.3(ITGB3):c.777+1G>A

SNV
Germline

Chr17:47286423

Pathogenic

Condition: not provided
Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Myocardial infarction, susceptibility to
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24

Reviewed By Expert Panel

CA8623036

rs_745766760

6 SubmittersRCV001055160 RCV001580245 RCV003152747 RCV005021384

NM_000419.5(ITGA2B):c.375G>A (p.Gly125=)

SNV
Germline

Chr17:44385857

Conflicting classifications of pathogenicity

Glanzmann thrombasthenia

Criteria Provided
Conflicting Classifications

CA500624275

rs_2048643952

2 SubmittersRCV001126258

NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys)

SNV
Germline

Chr17:44374463

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399790180

rs_2048521744

1 SubmittersRCV001225229

NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter)

SNV
Germline

Chr17:44374673

Pathogenic

Glanzmann thrombasthenia
Platelet-type bleeding disorder 16

Reviewed By Expert Panel

CA8602528

rs_79657230

3 SubmittersRCV001225251 RCV002245883

NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln)

SNV
Germline

Chr17:44374738

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399791171

rs_2048524687

1 SubmittersRCV001225228

NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter)

SNV
Germline

Chr17:44375647

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8602626

rs_200846140

2 SubmittersRCV001225291

NM_000419.5(ITGA2B):c.2267+1G>T

SNV
Germline

Chr17:44377008

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399798124

rs_2048550327

1 SubmittersRCV001225274

NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg)

SNV
Germline

Chr17:44377772

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA8602816

rs_77961246

2 SubmittersRCV001225296 RCV002254204

NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter)

SNV
Germline

Chr17:44378707

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA399801310

rs_1236922680

3 SubmittersRCV001225269 RCV003426003 RCV003313995

NM_000419.5(ITGA2B):c.1753-1G>A

SNV
Germline

Chr17:44379815

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399802017

rs_2048578129

1 SubmittersRCV001225272

NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp)

SNV
Germline

Chr17:44380103

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399802348

rs_1261397461

2 SubmittersRCV001225283

NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter)

SNV
Germline

Chr17:44380136

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399802411

rs_1344768030

1 SubmittersRCV001225266

NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter)

SNV
Germline

Chr17:44380142

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA399802424

rs_780837520

2 SubmittersRCV001225292 RCV002254203

NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter)

SNV
Germline

Chr17:44380626

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290950376

rs_78218617

1 SubmittersRCV001225302

NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr)

SNV
Germline

Chr17:44381058

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA290950815

rs_75622274

2 SubmittersRCV001225235 RCV002280899

NM_000419.5(ITGA2B):c.1028T>C (p.Leu343Pro)

SNV
Germline

Chr17:44383675

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804619

rs_1476448476

1 SubmittersRCV001225278

NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro)

SNV
Germline

Chr17:44384313

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8603305

rs_531610168

2 SubmittersRCV001225237

NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg)

SNV
Germline

Chr17:44384316

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA8603306

rs_753264426

2 SubmittersRCV001225276 RCV002245885

NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu)

SNV
Germline

Chr17:44384585

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805147

rs_2048627164

2 SubmittersRCV001225247

NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr17:44385065

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805421

rs_2048632227

1 SubmittersRCV001225293

NM_000419.5(ITGA2B):c.624+2C>A

SNV
Germline

Chr17:44385284

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805557

rs_2048635467

2 SubmittersRCV001225245

NM_000419.5(ITGA2B):c.574+5G>C

SNV
Germline

Chr17:44385546

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA913203563

rs_1598383011

1 SubmittersRCV001225230

NM_000419.5(ITGA2B):c.555T>G (p.Ile185Met)

SNV
Germline

Chr17:44385570

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805736

rs_2048639927

2 SubmittersRCV001225226

NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu)

SNV
Germline

Chr17:44385598

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805789

rs_148327798

1 SubmittersRCV001225250

NM_000419.5(ITGA2B):c.527C>A (p.Pro176His)

SNV
Germline

Chr17:44385598

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8603447

rs_148327798

1 SubmittersRCV001225246

NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala)

SNV
Germline

Chr17:44385599

Pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA399805793

rs_2048640485

4 SubmittersRCV002245882 RCV001225231 RCV001796397

NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg)

SNV
Germline

Chr17:44385645

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA399805892

rs_1279297832

2 SubmittersRCV001225258 RCV002280900

NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro)

SNV
Germline

Chr17:44386063

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA290956162

rs_1052533574

2 SubmittersRCV001225273 RCV004782674

NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val)

SNV
Germline

Chr17:44389343

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806881

rs_2048678209

1 SubmittersRCV001225268

NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg)

SNV
Germline

Chr17:47253892

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 2
Myocardial infarction, susceptibility to
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24

Reviewed By Expert Panel

CA291240306

rs_1022839092

4 SubmittersRCV001225262 RCV001360644 RCV004587079 RCV005021540

NM_000212.3(ITGB3):c.79+1G>A

SNV
Germline

Chr17:47253941

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Myocardial infarction, susceptibility to
Condition: not provided

Reviewed By Expert Panel

CA400028478

rs_2064977538

3 SubmittersRCV001225287 RCV005014259 RCV005094124

NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly)

SNV
Germline

Chr17:47274454

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400031666

rs_1880497383

1 SubmittersRCV001225279

NM_000212.3(ITGB3):c.448A>G (p.Met150Val)

SNV
Germline

Chr17:47284529

Likely pathogenic

Glanzmann thrombasthenia
Bleeding disorder, platelet-type, 24
Glanzmann thrombasthenia 1
Glanzmann thrombasthenia 2
Condition: not provided

Reviewed By Expert Panel

CA8622961

rs_767548512

3 SubmittersRCV001225290 RCV002280901 RCV002254202 RCV002281175 RCV003558758

NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter)

SNV
Germline

Chr17:47284586

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA291224658

rs_1038392991

2 SubmittersRCV001225299 RCV004561999

NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser)

SNV
Germline

Chr17:47286274

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400023389

rs_2065102210

1 SubmittersRCV001225284

NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter)

SNV
Germline

Chr17:47287169

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400025022

rs_1193381168

1 SubmittersRCV001225285

NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp)

SNV
Germline

Chr17:47292336

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400029369

rs_1255017270

1 SubmittersRCV001225244

NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg)

SNV
Germline

Chr17:47292472

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400029953

rs_1397448267

1 SubmittersRCV001225242

NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr)

SNV
Germline

Chr17:47292473

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400029958

rs_2065130922

1 SubmittersRCV001225239

NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg)

SNV
Germline

Chr17:47299319

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400032350

rs_2065157102

1 SubmittersRCV001225240

NM_000212.3(ITGB3):c.1913+5G>T

SNV
Germline

Chr17:47299535

Likely pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 2
Myocardial infarction, susceptibility to
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24

Reviewed By Expert Panel

CA8623377

rs_764779088

5 SubmittersRCV001225277 RCV003558756 RCV005866875 RCV005014258

NM_000212.3(ITGB3):c.2014+1G>A

SNV
Germline

Chr17:47300579

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400033055

rs_2065163860

1 SubmittersRCV001225241

NM_000419.5(ITGA2B):c.671-1G>A

SNV
Germline

Chr17:44385077

Likely pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA399805445

rs_2048632400

1 SubmittersRCV001226571

NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys)

SNV
Germline

Chr17:44376089

Likely pathogenic

Glanzmann thrombasthenia
Gastric cancer

Reviewed By Expert Panel

CA399795789

rs_2048541187

3 SubmittersRCV001254666 RCV005909229

NM_000419.5(ITGA2B):c.1752+2T>C

SNV
Germline

Chr17:44380000

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA8602969

rs_769156315

5 SubmittersRCV001254665 RCV001268766 RCV003339566

NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp)

SNV
Germline

Chr17:44380911

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399803524

rs_2048591163

2 SubmittersRCV001254664

NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val)

SNV
Germline

Chr17:44385649

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805900

rs_2048641442

2 SubmittersRCV001254663

NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter)

SNV
Germline

Chr17:47292519

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA400030168

rs_185135224

3 SubmittersRCV001254668 RCV004800757

NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp)

SNV
Germline

Chr17:47299314

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400032338

rs_2065157059

2 SubmittersRCV001254669

NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe)

SNV
Germline

Chr17:44375039

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290946484

rs_77458039

1 SubmittersRCV001290459

NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu)

SNV
Germline

Chr17:44375966

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399795351

rs_1166506747

1 SubmittersRCV001290475

NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter)

SNV
Germline

Chr17:44377040

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399798321

rs_2048550784

1 SubmittersRCV001290505

NM_000419.5(ITGA2B):c.1879-2A>G

SNV
Germline

Chr17:44378712

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290949031

rs_77229108

1 SubmittersRCV001290488

NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr17:44380082

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290949843

rs_74602141

1 SubmittersRCV001290490

NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln)

SNV
Germline

Chr17:44380102

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8602986

rs_769405222

1 SubmittersRCV001290504

NM_000419.5(ITGA2B):c.1201G>T (p.Gly401Cys)

SNV
Germline

Chr17:44383502

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804280

rs_2048613694

1 SubmittersRCV001290474

NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr)

SNV
Germline

Chr17:44383682

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA399804633

rs_2048616842

2 SubmittersRCV001290494 RCV003313793

NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val)

SNV
Germline

Chr17:44383930

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804765

rs_2048619898

1 SubmittersRCV001290463

NM_000419.5(ITGA2B):c.961G>T (p.Gly321Trp)

SNV
Germline

Chr17:44383931

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804768

rs_2048619921

1 SubmittersRCV001290464

NM_000419.5(ITGA2B):c.799+2T>C

SNV
Germline

Chr17:44384946

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805155

rs_1194700242

1 SubmittersRCV001290485

NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser)

SNV
Germline

Chr17:44385309

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805612

rs_2048635741

2 SubmittersRCV001290450

NM_000419.5(ITGA2B):c.571T>G (p.Phe191Val)

SNV
Germline

Chr17:44385554

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805699

rs_2048639566

1 SubmittersRCV001290465

NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter)

SNV
Germline

Chr17:44385594

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290955739

rs_79713558

1 SubmittersRCV001290489

NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter)

SNV
Germline

Chr17:44386054

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA399806384

rs_2048646082

2 SubmittersRCV001290479 RCV002254212

NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter)

SNV
Germline

Chr17:47274439

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Myocardial infarction, susceptibility to

Reviewed By Expert Panel

CA8622852

rs_75427428

5 SubmittersRCV001290487 RCV003558799 RCV005014336

NM_000212.3(ITGB3):c.166-2A>G

SNV
Germline

Chr17:47283352

Pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA291224483

rs_75354240

2 SubmittersRCV001290480 RCV003558798

NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter)

SNV
Germline

Chr17:47283450

Pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA400020703

rs_1399113954

3 SubmittersRCV001290503 RCV003558800

NM_000212.3(ITGB3):c.353T>A (p.Leu118His)

SNV
Germline

Chr17:47283541

Likely pathogenic

Glanzmann thrombasthenia
ITGB3-related disorder
Myocardial infarction, susceptibility to
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
not specified
Condition: not provided

Reviewed By Expert Panel

CA291224511

rs_368325996

5 SubmittersRCV001290460 RCV003393952 RCV005014333 RCV005057219 RCV004699276

NM_000212.3(ITGB3):c.431T>G (p.Met144Arg)

SNV
Germline

Chr17:47284512

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Myocardial infarction, susceptibility to

Reviewed By Expert Panel

CA291224645

rs_77963874

4 SubmittersRCV001290482 RCV002222693 RCV005014335

NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys)

SNV
Germline

Chr17:47286292

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA400023432

rs_2065102310

2 SubmittersRCV001290496 RCV002222694

NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)

SNV
Germline

Chr17:47286310

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Condition: not provided
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA291224887

rs_79208797

5 SubmittersRCV001290457 RCV002254211 RCV003558796 RCV005236768

NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter)

SNV
Germline

Chr17:47286369

Pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA400023596

rs_758633284

3 SubmittersRCV001290458 RCV003558797

NM_000212.3(ITGB3):c.760C>A (p.Gln254Lys)

SNV
Germline

Chr17:47286405

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400023674

rs_2065102917

1 SubmittersRCV001290469

NM_000212.3(ITGB3):c.940-2A>G

SNV
Germline

Chr17:47289679

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400025605

rs_2065117719

1 SubmittersRCV001290484

NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr)

SNV
Germline

Chr17:47289681

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400025612

rs_2065117726

1 SubmittersRCV001290470

NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala)

SNV
Germline

Chr17:47289682

Likely pathogenic

Glanzmann thrombasthenia
Inborn genetic diseases

Reviewed By Expert Panel

CA400025615

rs_2065117736

2 SubmittersRCV001290453 RCV005652586

NM_000212.3(ITGB3):c.1260G>A (p.Thr420=)

SNV
Germline

Chr17:47291088

Likely pathogenic

Glanzmann thrombasthenia
Condition: not provided
Cervical cancer

Reviewed By Expert Panel

CA8623200

rs_74458693

3 SubmittersRCV001290478 RCV003546696 RCV005910915

NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser)

SNV
Germline

Chr17:47292524

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400030198

rs_1395325049

1 SubmittersRCV001290468

NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly)

SNV
Germline

Chr17:47299418

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400032570

rs_747534508

1 SubmittersRCV001290476

NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr)

SNV
Germline

Chr17:47299488

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400032726

rs_1181336139

1 SubmittersRCV001290456

NM_000212.3(ITGB3):c.1913+1G>A

SNV
Germline

Chr17:47299531

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400032825

rs_2065158302

1 SubmittersRCV001290473

NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe)

SNV
Germline

Chr17:44383907

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Condition: not provided

Reviewed By Expert Panel

CA399804719

rs_2048619428

4 SubmittersRCV001332427 RCV004762095 RCV006279599

NM_000419.5(ITGA2B):c.2602-2A>G

SNV
Germline

Chr17:44375718

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399793915

rs_2143436505

2 SubmittersRCV001580239

NM_000419.5(ITGA2B):c.2348+5G>C

SNV
Germline

Chr17:44376303

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290947484

rs_776442328

1 SubmittersRCV001580222

NM_000419.5(ITGA2B):c.2063C>T (p.Ala688Val)

SNV
Germline

Chr17:44378393

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399799766

rs_1245816431

1 SubmittersRCV001580230

NM_000419.5(ITGA2B):c.2029G>A (p.Glu677Lys)

SNV
Germline

Chr17:44378427

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399800002

rs_2143450843

1 SubmittersRCV001580215

NM_000419.5(ITGA2B):c.1233C>A (p.Tyr411Ter)

SNV
Germline

Chr17:44381039

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399803781

rs_779910477

1 SubmittersRCV001580257

NM_000419.5(ITGA2B):c.1210+5G>A

SNV
Germline

Chr17:44383488

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA915940251

rs_2143475577

1 SubmittersRCV001580234

NM_000419.5(ITGA2B):c.1051C>T (p.Arg351Ter)

SNV
Germline

Chr17:44383652

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290954030

rs_1032879686

1 SubmittersRCV001580228

NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp)

SNV
Germline

Chr17:44384345

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805011

rs_2143480810

1 SubmittersRCV001580263

NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile)

SNV
Germline

Chr17:44384543

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805055

rs_2143481657

1 SubmittersRCV001580226

NM_000419.5(ITGA2B):c.800-2A>G

SNV
Germline

Chr17:44384587

Likely pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA399805152

rs_2143481938

2 SubmittersRCV001580237 RCV004762163

NM_000419.5(ITGA2B):c.647C>T (p.Ala216Val)

SNV
Germline

Chr17:44385187

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805506

rs_2143485154

1 SubmittersRCV001580219

NM_000419.5(ITGA2B):c.641T>G (p.Leu214Arg)

SNV
Germline

Chr17:44385193

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805518

rs_137852911

1 SubmittersRCV001580255

NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter)

SNV
Germline

Chr17:44385567

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA399805728

rs_1416238665

2 SubmittersRCV001580241 RCV003989698

NM_000419.5(ITGA2B):c.416C>T (p.Ala139Val)

SNV
Germline

Chr17:44385709

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806036

rs_2143489510

1 SubmittersRCV001580238

NM_000212.3(ITGB3):c.392G>C (p.Arg131Pro)

SNV
Germline

Chr17:47284473

Likely pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA8622954

rs_201806801

2 SubmittersRCV001580244 RCV003546709

NM_000212.3(ITGB3):c.614+1G>T

SNV
Germline

Chr17:47284696

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400023344

rs_2065096678

1 SubmittersRCV001580218

NM_000212.3(ITGB3):c.728A>T (p.Asp243Val)

SNV
Germline

Chr17:47286373

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400023604

rs_2143097053

1 SubmittersRCV001580220

NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter)

SNV
Germline

Chr17:47286419

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA400023704

rs_2143097219

2 SubmittersRCV001580213 RCV002254214

NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser)

SNV
Germline

Chr17:47289772

Likely pathogenic

Glanzmann thrombasthenia
Condition: not provided
Myocardial infarction, susceptibility to
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24

Reviewed By Expert Panel

CA400025814

rs_2065118116

3 SubmittersRCV001580247 RCV002573261 RCV005014597

NM_000212.3(ITGB3):c.1031A>G (p.Tyr344Cys)

SNV
Germline

Chr17:47289772

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400025816

rs_2065118116

1 SubmittersRCV001580246

NM_000212.3(ITGB3):c.1094A>G (p.Asn365Ser)

SNV
Germline

Chr17:47290243

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400026292

rs_2143107081

1 SubmittersRCV001580232

NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg)

SNV
Germline

Chr17:47299418

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA8623361

rs_747534508

3 SubmittersRCV001580240 RCV003558843 RCV004801041

NM_000212.3(ITGB3):c.2080C>T (p.Gln694Ter)

SNV
Germline

Chr17:47302786

Pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA400033218

rs_2143138190

2 SubmittersRCV001580261 RCV003558844

NM_000212.3(ITGB3):c.2302-1G>A

SNV
Germline

Chr17:47310138

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400034626

rs_2143158065

1 SubmittersRCV001580256

NM_000212.3(ITGB3):c.1495T>C (p.Cys499Arg)

SNV
Germline

Chr17:47292373

Likely pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA400029525

rs_2143113460

2 SubmittersRCV001803403 RCV003728010

NM_000212.3(ITGB3):c.917A>C (p.His306Pro)

SNV
Germline

Chr17:47287209

Likely pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA291224999

rs_13306476

2 SubmittersRCV001803404 RCV003560851

NM_000212.3(ITGB3):c.1288C>T (p.Arg430Ter)

SNV
Germline

Chr17:47292166

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400028591

rs_1458116788

1 SubmittersRCV001803407

NM_000419.5(ITGA2B):c.620C>T (p.Thr207Ile)

SNV
Germline

Chr17:44385290

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805570

rs_2143485911

1 SubmittersRCV001803410

NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter)

SNV
Germline

Chr17:44374461

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399790170

rs_2143427792

1 SubmittersRCV001803413

NM_000212.3(ITGB3):c.1736G>A (p.Trp579Ter)

SNV
Germline

Chr17:47299353

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400032429

rs_2143129828

1 SubmittersRCV001803417

NM_000419.5(ITGA2B):c.1993C>T (p.Gln665Ter)

SNV
Germline

Chr17:44378463

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399801004

rs_1472992102

1 SubmittersRCV001803421

NM_000419.5(ITGA2B):c.432G>A (p.Trp144Ter)

SNV
Germline

Chr17:44385693

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805999

rs_2143489377

1 SubmittersRCV001803423

NM_000212.3(ITGB3):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr17:47287184

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400025098

rs_2065105940

1 SubmittersRCV001803425

NM_000212.3(ITGB3):c.2147G>T (p.Gly716Val)

SNV
Germline

Chr17:47307483

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400033923

rs_1205019601

1 SubmittersRCV001803426

NM_000212.3(ITGB3):c.1980C>A (p.Tyr660Ter)

SNV
Germline

Chr17:47300544

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400032983

rs_777913442

1 SubmittersRCV001803427

NM_000212.3(ITGB3):c.842A>C (p.His281Pro)

SNV
Germline

Chr17:47287134

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400024802

rs_2143098907

1 SubmittersRCV001803428

NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter)

SNV
Germline

Chr17:47292280

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA400029121

rs_2143112940

2 SubmittersRCV001803431 RCV003339746

NM_000212.3(ITGB3):c.856G>A (p.Gly286Arg)

SNV
Germline

Chr17:47287148

Pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA400024922

rs_1199275720

2 SubmittersRCV001803432 RCV003560852

NM_000212.3(ITGB3):c.361+1G>A

SNV
Germline

Chr17:47283550

Pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA400021329

rs_2143090512

2 SubmittersRCV001803433 RCV005057624

NM_000419.5(ITGA2B):c.574+1G>A

SNV
Germline

Chr17:44385550

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805691

rs_1291613591

1 SubmittersRCV001803435

NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile)

SNV
Germline

Chr17:44377713

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399798895

rs_2143447323

1 SubmittersRCV001803436

NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly)

SNV
Germline

Chr17:44384573

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805123

rs_2143481840

1 SubmittersRCV001803437

NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys)

SNV
Germline

Chr17:44385175

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805484

rs_1355838837

1 SubmittersRCV001803438

NM_000419.5(ITGA2B):c.625-1G>A

SNV
Germline

Chr17:44385210

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805552

rs_2143485431

1 SubmittersRCV001803439

NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter)

SNV
Germline

Chr17:44376112

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399796017

rs_2143439415

1 SubmittersRCV001803440

NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter)

SNV
Germline

Chr17:47287213

Pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA400025209

rs_2143099209

2 SubmittersRCV001803442 RCV004728822

NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter)

SNV
Germline

Chr17:47284525

Pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400021992

rs_887221055

2 SubmittersRCV002245360 RCV004577562

NM_000419.5(ITGA2B):c.2095-19T>A

SNV
Germline

Chr17:44377809

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA915940312

rs_2143447856

1 SubmittersRCV002254790

NM_000212.3(ITGB3):c.2014+5G>A

SNV
Germline

Chr17:47300583

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA915940701

rs_2143133455

1 SubmittersRCV002254792

NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn)

SNV
Germline

Chr17:44376096

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399795907

rs_1196551352

1 SubmittersRCV002254793

NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn)

SNV
Germline

Chr17:47289730

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400025722

rs_2143105830

1 SubmittersRCV002254794

NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp)

SNV
Germline

Chr17:47299431

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400032596

rs_2143130130

1 SubmittersRCV002254796

NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter)

SNV
Germline

Chr17:44383935

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804780

rs_2143478260

1 SubmittersRCV002254798

NM_000419.5(ITGA2B):c.1259T>C (p.Val420Ala)

SNV
Germline

Chr17:44381013

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399803733

rs_2048592296

1 SubmittersRCV002254801

NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=)

SNV
Germline

Chr17:44374354

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA500261104

rs_757268030

1 SubmittersRCV002254806

NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter)

SNV
Germline

Chr17:44375069

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399792054

rs_2143432066

1 SubmittersRCV002254810

NM_000212.3(ITGB3):c.1641C>G (p.Cys547Trp)

SNV
Germline

Chr17:47292519

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400030171

rs_185135224

1 SubmittersRCV002254811

NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro)

SNV
Germline

Chr17:44377735

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1

Reviewed By Expert Panel

CA399799004

rs_2143447451

2 SubmittersRCV002254812 RCV002280917

NM_000419.5(ITGA2B):c.408G>C (p.Val136=)

SNV
Germline

Chr17:44385824

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA500624244

rs_1400938437

2 SubmittersRCV002254813

NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys)

SNV
Germline

Chr17:47284503

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA400021881

rs_1739770567

3 SubmittersRCV002254817 RCV003560900 RCV003987989

NM_000212.3(ITGB3):c.415G>C (p.Asp139His)

SNV
Germline

Chr17:47284496

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400021843

rs_2143092554

1 SubmittersRCV002254818

NM_000419.5(ITGA2B):c.423G>T (p.Trp141Cys)

SNV
Germline

Chr17:44385702

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806022

rs_2143489430

1 SubmittersRCV002254819

NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter)

SNV
Germline

Chr17:44375856

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399794330

rs_2143437407

1 SubmittersRCV002254821

NM_000212.3(ITGB3):c.1388G>C (p.Cys463Ser)

SNV
Germline

Chr17:47292266

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400029054

rs_2143112826

1 SubmittersRCV002254822

NM_000419.5(ITGA2B):c.188G>A (p.Arg63Lys)

SNV
Germline

Chr17:44389286

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8603528

rs_767688038

1 SubmittersRCV002254825

NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter)

SNV
Germline

Chr17:47292187

Pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8623244

rs_754250394

2 SubmittersRCV002264879 RCV004577564

NM_000419.5(ITGA2B):c.800-1G>A

SNV
Germline

Chr17:44384586

Likely pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia

Criteria Provided
Multiple Submitters
No Conflicts

CA8603333

rs_754740619

2 SubmittersRCV002281023 RCV006470414

NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter)

SNV
Germline

Chr17:44385895

Pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806223

rs_2510085242

2 SubmittersRCV002281026 RCV002511149

NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)

SNV
Germline

Chr17:44389415

Likely pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399807023

rs_2048679372

2 SubmittersRCV002281028 RCV002511150

NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His)

SNV
Germline

Chr17:44381043

Conflicting classifications of pathogenicity

Glanzmann thrombasthenia 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA399803787

rs_773649547

2 SubmittersRCV002281029 RCV005585144

NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg)

SNV
Germline

Chr17:47253940

Conflicting classifications of pathogenicity

Glanzmann thrombasthenia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA291240434

rs_1037047731

2 SubmittersRCV002281034 RCV005096021

NM_000419.5(ITGA2B):c.1545-1G>A

SNV
Germline

Chr17:44380302

Pathogenic

Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Platelet-type bleeding disorder 16

Reviewed By Expert Panel

CA8603039

rs_773464534

3 SubmittersRCV002466786 RCV002511169 RCV003340494

NM_000212.3(ITGB3):c.863T>C (p.Leu288Pro)

SNV
Germline

Chr17:47287155

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400024958

rs_2547617068

1 SubmittersRCV002511510

NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr17:44380255

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399802478

rs_1175814929

1 SubmittersRCV002511514

NM_000212.3(ITGB3):c.1525C>T (p.Gln509Ter)

SNV
Germline

Chr17:47292403

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400029664

rs_2143113586

1 SubmittersRCV002511518

NM_000419.5(ITGA2B):c.953C>T (p.Ser318Leu)

SNV
Germline

Chr17:44383939

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804787

rs_2510082649

1 SubmittersRCV002511519

NM_000212.3(ITGB3):c.121C>T (p.Gln41Ter)

SNV
Germline

Chr17:47274460

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400031690

rs_2547613560

1 SubmittersRCV002511528

NM_000419.5(ITGA2B):c.48G>A (p.Trp16Ter)

SNV
Germline

Chr17:44389426

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399807046

rs_2143507207

1 SubmittersRCV002511531

NM_000212.3(ITGB3):c.1595G>T (p.Cys532Phe)

SNV
Germline

Chr17:47292473

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400029961

rs_2065130922

1 SubmittersRCV002511533

NM_000419.5(ITGA2B):c.475G>A (p.Gly159Ser)

SNV
Germline

Chr17:44385650

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8603454

rs_773089115

1 SubmittersRCV002511534

NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter)

SNV
Germline

Chr17:44380283

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA290950094

rs_74857210

1 SubmittersRCV002511535

NM_000419.5(ITGA2B):c.3061-1G>A

SNV
Germline

Chr17:44372424

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399787972

rs_2510070789

1 SubmittersRCV002511538

NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter)

SNV
Germline

Chr17:44380291

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399802559

rs_2510079586

1 SubmittersRCV002511539

NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr17:47274457

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400031679

rs_2547613559

1 SubmittersRCV002511542

NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser)

SNV
Germline

Chr17:47299430

Likely pathogenic

Glanzmann thrombasthenia
Myocardial infarction, susceptibility to
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Condition: not provided
Glanzmann thrombasthenia 2

Reviewed By Expert Panel

CA291227621

rs_144884023

5 SubmittersRCV002511543 RCV005019223 RCV005096992 RCV005860313

NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln)

SNV
Germline

Chr17:47286370

Pathogenic

Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 2
Myocardial infarction, susceptibility to
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24

Reviewed By Expert Panel

CA291224896

rs_377162158

5 SubmittersRCV002511544 RCV003561061 RCV004690302 RCV005019224

NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly)

SNV
Germline

Chr17:47292517

Pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA291225782

rs_902952044

2 SubmittersRCV002511546 RCV003493963

NM_000212.3(ITGB3):c.1303G>T (p.Glu435Ter)

SNV
Germline

Chr17:47292181

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400028645

rs_2065129084

1 SubmittersRCV002511548

NM_000419.5(ITGA2B):c.2255T>G (p.Leu752Arg)

SNV
Germline

Chr17:44377021

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399798192

rs_2510075915

1 SubmittersRCV002511550

NM_000419.5(ITGA2B):c.1096C>T (p.Arg366Ter)

SNV
Germline

Chr17:44383607

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804480

rs_2048615415

1 SubmittersRCV002511552

NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter)

SNV
Germline

Chr17:44375616

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399792888

rs_2048534441

1 SubmittersRCV002511559

NM_000419.5(ITGA2B):c.1600+1G>A

SNV
Germline

Chr17:44380245

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399802454

rs_1389409325

1 SubmittersRCV002511564

NM_000419.5(ITGA2B):c.97A>G (p.Asn33Asp)

SNV
Germline

Chr17:44389377

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806951

rs_2510088109

1 SubmittersRCV002511566

NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)

SNV
Germline

Chr17:44385603

Pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA399805800

rs_2048640591

1 SubmittersRCV002716720

NM_000419.5(ITGA2B):c.1946+2T>G

SNV
Germline

Chr17:44378641

Likely pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA399801099

rs_2143452148

1 SubmittersRCV003041017

NM_000212.3(ITGB3):c.615-1G>A

SNV
Unknown

Chr17:47286259

Pathogenic

Glanzmann thrombasthenia 2

Criteria Provided
Single Submitter

CA400023351

rs_1373910050

1 SubmittersRCV003153134

NM_000419.5(ITGA2B):c.310+1G>A

SNV
Germline

Chr17:44386009

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8603502

rs_776820510

1 SubmittersRCV003222556

NM_000212.3(ITGB3):c.655G>A (p.Val219Met)

SNV
Germline

Chr17:47286300

Likely pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA8623016

rs_747116356

2 SubmittersRCV003222557 RCV003561238

NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter)

SNV
Germline

Chr17:44374661

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399790399

rs_2510072662

1 SubmittersRCV003222558

NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter)

SNV
Germline

Chr17:47292354

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400029436

rs_2143113385

1 SubmittersRCV003222559

NM_000419.5(ITGA2B):c.470C>A (p.Pro157His)

SNV
Germline

Chr17:44385655

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805912

rs_2510084880

1 SubmittersRCV003222563

NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter)

SNV
Germline

Chr17:47287084

Pathogenic

Glanzmann thrombasthenia
Condition: not provided

Reviewed By Expert Panel

CA400024376

rs_1442321434

2 SubmittersRCV003222565 RCV003561240

NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn)

SNV
Germline

Chr17:44380293

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA8603038

rs_767588159

1 SubmittersRCV003222567

NM_000419.5(ITGA2B):c.1946+3G>T

SNV
Germline

Chr17:44378640

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Lung cancer

Reviewed By Expert Panel

CA626121071

rs_1182502058

4 SubmittersRCV003222569 RCV003388176 RCV005927300

NM_000212.3(ITGB3):c.1990G>T (p.Glu664Ter)

SNV
Germline

Chr17:47300554

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400033003

rs_373150039

1 SubmittersRCV003222573

NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter)

SNV
Germline

Chr17:44374420

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399789759

rs_2510072374

1 SubmittersRCV003222574

NM_000419.5(ITGA2B):c.520T>C (p.Tyr174His)

SNV
Germline

Chr17:44385605

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399805805

rs_2048640612

1 SubmittersRCV003222576

NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg)

SNV
Germline

Chr17:47299340

Pathogenic

Glanzmann thrombasthenia 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400032399

rs_2547621015

2 SubmittersRCV003236384 RCV005102484

NM_000419.5(ITGA2B):c.2449-1G>C

SNV
Germline

Chr17:44375986

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399795582

rs_2510074785

1 SubmittersRCV003234989

NM_000419.5(ITGA2B):c.1429G>C (p.Ala477Pro)

SNV
Germline

Chr17:44380610

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399803370

rs_2510080068

1 SubmittersRCV003234990

NM_000212.3(ITGB3):c.646T>C (p.Tyr216His)

SNV
Germline

Chr17:47286291

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400023428

rs_2547616779

1 SubmittersRCV003234995

NM_000419.5(ITGA2B):c.212C>G (p.Pro71Arg)

SNV
Germline

Chr17:44386108

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806497

rs_2510085546

1 SubmittersRCV003234996

NM_000212.3(ITGB3):c.2301+1G>C

SNV
Germline

Chr17:47307638

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA400034479

rs_2547623841

1 SubmittersRCV003234997

NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu)

SNV
Germline

Chr17:44385833

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399806084

rs_2510085154

1 SubmittersRCV003234998

NM_000419.5(ITGA2B):c.1642C>T (p.Gln548Ter)

SNV
Germline

Chr17:44380112

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399802364

rs_2510079291

1 SubmittersRCV003235000

NM_000419.5(ITGA2B):c.959T>C (p.Phe320Ser)

SNV
Germline

Chr17:44383933

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399804774

rs_2510082644

1 SubmittersRCV003330341

NM_000419.5(ITGA2B):c.1947-2A>G

SNV
Germline

Chr17:44378511

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

CA399801096

rs_2510077579

1 SubmittersRCV003330346

NM_000212.3(ITGB3):c.2301+5G>A

SNV
Germline

Chr17:47307642

Conflicting classifications of pathogenicity

Condition: not provided
Glanzmann thrombasthenia 2

Criteria Provided
Conflicting Classifications

CA2582342191

rs_2547623844

2 SubmittersRCV003332912 RCV004798980

NM_000419.5(ITGA2B):c.3077G>T (p.Arg1026Leu)

SNV
Germline

Chr17:44372407

Conflicting classifications of pathogenicity

ITGA2B-related disorder
Glanzmann thrombasthenia

Criteria Provided
Conflicting Classifications

CA399787855

rs_879255514

2 SubmittersRCV004550572 RCV006472640

NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter)

SNV
Germline

Chr17:44380883

Pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA399803464

rs_148618973

1 SubmittersRCV003606210

NM_000419.5(ITGA2B):c.2336T>C (p.Val779Ala)

SNV
Germline

Chr17:44376320

Likely pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA8602732

rs_764819935

1 SubmittersRCV003606688

NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter)

SNV
Germline

Chr17:44383547

Pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA290953888

rs_556258793

1 SubmittersRCV003606751

NM_000212.3(ITGB3):c.939+1G>T

SNV
Germline

Chr17:47287232

Likely pathogenic

Condition: not provided
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24
Myocardial infarction, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA291225004

rs_987869733

2 SubmittersRCV003720246 RCV005014897

NM_000419.5(ITGA2B):c.670G>A (p.Gly224Ser)

SNV
Germline

Chr17:44385164

Pathogenic

Glanzmann thrombasthenia 1

Criteria Provided
Single Submitter

CA399805456

rs_2510083991

1 SubmittersRCV004006261

NM_000419.5(ITGA2B):c.189-1G>C

SNV
Germline

Chr17:44386132

Likely pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA399806548

rs_1369462778

1 SubmittersRCV004018190

NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)

SNV
Germline

Chr17:47302791

Likely pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA400033232

rs_373450805

1 SubmittersRCV004018191

NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter)

SNV
Germline

Chr17:44385319

Likely pathogenic

Glanzmann thrombasthenia

Criteria Provided
Single Submitter

CA399805637

rs_1210788594

1 SubmittersRCV004018240

NM_000419.5(ITGA2B):c.605T>G (p.Phe202Cys)

SNV
Germline

Chr17:44385305

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

rs_2510084207

1 SubmittersRCV004577678

NM_000212.3(ITGB3):c.428T>C (p.Leu143Ser)

SNV
Germline

Chr17:47284509

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

rs_121918452

1 SubmittersRCV004577679

NM_000212.3(ITGB3):c.1815C>T (p.Gly605=)

SNV
Germline

Chr17:47299432

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

rs_2547621060

1 SubmittersRCV004577680

NM_000212.3(ITGB3):c.1431C>T (p.Gly477=)

SNV
Germline

Chr17:47292309

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

rs_2547619081

1 SubmittersRCV004577681

NM_000419.5(ITGA2B):c.2828C>T (p.Pro943Leu)

SNV
Germline

Chr17:44375011

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

rs_2510073184

1 SubmittersRCV004577682

NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter)

SNV
Germline

Chr17:47307558

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

rs_2547623783

1 SubmittersRCV004577683

NM_000419.5(ITGA2B):c.1423C>T (p.Gln475Ter)

SNV
Germline

Chr17:44380616

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

rs_2048587538

1 SubmittersRCV004577685

NM_000212.3(ITGB3):c.1448G>A (p.Cys483Tyr)

SNV
Germline

Chr17:47292326

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

rs_2547619090

1 SubmittersRCV004577686

NM_000212.3(ITGB3):c.563C>T (p.Ser188Leu)

SNV
Germline

Chr17:47284644

Likely pathogenic

Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Bleeding disorder, platelet-type, 24

Reviewed By Expert Panel

rs_143146734

2 SubmittersRCV004577691 RCV005392823

NM_000212.3(ITGB3):c.1801T>A (p.Cys601Ser)

SNV
Germline

Chr17:47299418

Pathogenic

Glanzmann thrombasthenia 2

Criteria Provided
Single Submitter

1 SubmittersRCV004702727

NM_000419.5(ITGA2B):c.188+1G>A

SNV
Germline

Chr17:44389285

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

1 SubmittersRCV004819033

NM_000419.5(ITGA2B):c.1355T>G (p.Leu452Arg)

SNV
Germline

Chr17:44380917

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

1 SubmittersRCV004819035

NM_000419.5(ITGA2B):c.989A>T (p.Asn330Ile)

SNV
Germline

Chr17:44383903

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

1 SubmittersRCV004819036

NM_000419.5(ITGA2B):c.575-2A>T

SNV
Germline

Chr17:44385337

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

1 SubmittersRCV004819039

NM_000419.5(ITGA2B):c.2935G>T (p.Glu979Ter)

SNV
Germline

Chr17:44374667

Likely pathogenic

Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16

Criteria Provided
Single Submitter

1 SubmittersRCV005020383

NM_000419.5(ITGA2B):c.2841+13G>A

SNV
Germline

Chr17:44374985

Conflicting classifications of pathogenicity

Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005012239 RCV006617374

NM_000419.5(ITGA2B):c.879G>A (p.Trp293Ter)

SNV
Germline

Chr17:44384323

Likely pathogenic

Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16

Criteria Provided
Single Submitter

1 SubmittersRCV005012240

NM_000419.5(ITGA2B):c.517G>T (p.Glu173Ter)

SNV
Germline

Chr17:44385608

Likely pathogenic

Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16

Criteria Provided
Single Submitter

1 SubmittersRCV005012241

NM_000212.3(ITGB3):c.1260+9G>A

SNV
Germline

Chr17:47291097

Likely pathogenic

Glanzmann thrombasthenia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005215803

NM_000419.5(ITGA2B):c.1444C>T (p.Gln482Ter)

SNV
Germline

Chr17:44380486

Likely pathogenic

Glanzmann thrombasthenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005234886

NM_000212.3(ITGB3):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr17:47292430

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

1 SubmittersRCV005252101

NM_000419.5(ITGA2B):c.797G>A (p.Trp266Ter)

SNV
Germline

Chr17:44384950

Likely pathogenic

Glanzmann thrombasthenia 1
Platelet-type bleeding disorder 16
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005398133 RCV006251496

NM_000212.3(ITGB3):c.432G>A (p.Met144Ile)

SNV
Germline

Chr17:47284513

Likely pathogenic

Glanzmann thrombasthenia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005625090

NM_000419.5(ITGA2B):c.2822G>A (p.Trp941Ter)

SNV
Germline

Chr17:44375017

Pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

1 SubmittersRCV005649309

NM_000212.3(ITGB3):c.450G>A (p.Met150Ile)

SNV
Germline

Chr17:47284531

Likely pathogenic

Glanzmann thrombasthenia

Reviewed By Expert Panel

1 SubmittersRCV005649310

NM_000419.5(ITGA2B):c.2349-19G>A

SNV
Germline

Chr17:44376203

Likely pathogenic

Glanzmann thrombasthenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV005859912

NM_000212.3(ITGB3):c.1591C>T (p.Gln531Ter)

SNV
Germline

Chr17:47292469

Pathogenic

Glanzmann thrombasthenia 2

Criteria Provided
Single Submitter

1 SubmittersRCV006460997