Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005373.3(MPL):c.556C>T (p.Gln186Ter)	SNV Germline	Chr1:43339435	Pathogenic	Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2 Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1 Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA123771	rs_121913610	3 SubmittersRCV000015217 RCV005025056 RCV004558254
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)	SNV Germline	Chr1:43340042	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Condition: not provided Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2 Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA123774	rs_121913611	8 SubmittersRCV000015219 RCV001818159 RCV001038272 RCV004558256 RCV005025057
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)	SNV Germline	Chr1:43352768	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2 Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1 Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA123777	rs_121913612	4 SubmittersRCV000015220 RCV001378786 RCV005016267 RCV004558257
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	SNV Germline	Chr1:43338634	Pathogenic	Congenital amegakaryocytic thrombocytopenia not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Thrombocytopenia Condition: not provided Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts	CA123780	rs_28928907	20 SubmittersRCV000015221 RCV000121539 RCV000792211 RCV000852103 RCV001091414 RCV004558258 RCV005003358
NM_005373.3(MPL):c.1473G>A (p.Trp491Ter)	SNV Germline	Chr1:43349267	Pathogenic	Congenital amegakaryocytic thrombocytopenia 1	No Assertion Criteria Provided	CA123782	rs_121913613	1 SubmittersRCV004558259
NM_005373.3(MPL):c.1566-1G>T	SNV Germline	Chr1:43352215	Pathogenic	Congenital amegakaryocytic thrombocytopenia 1	No Assertion Criteria Provided	CA339991849	rs_1570474015	1 SubmittersRCV004558260
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)	SNV Germline	Chr1:43349308	Pathogenic	Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123790	rs_121913614	4 SubmittersRCV000015226 RCV005606635 RCV001543455
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)	SNV Germline/somatic	Chr1:43349338	Conflicting classifications of pathogenicity	Myelofibrosis with myeloid metaplasia Thrombocythemia 2, somatic Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Conflicting Classifications	CA123792	rs_121913615	3 SubmittersRCV000015227 RCV000022668 RCV000501989 RCV001361128
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)	SNV Germline	Chr1:43352271	Pathogenic	not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia MPL-related disorder	Criteria Provided Single Submitter	CA160807	rs_369156948	3 SubmittersRCV000121532 RCV001854660 RCV004734658
NM_005373.3(MPL):c.340G>A (p.Val114Met)	SNV Germline	Chr1:43338669	Conflicting classifications of pathogenicity	not specified Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA160821	rs_12731981	13 SubmittersRCV000121540 RCV000371334 RCV000467700 RCV001594849 RCV005430163
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)	SNV Germline	Chr1:43339534	Conflicting classifications of pathogenicity	not specified Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Condition: not provided MPL-related disorder Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA160831	rs_142737453	7 SubmittersRCV000121544 RCV000796648 RCV000665815 RCV003407517 RCV004734659 RCV005430164
NM_005373.3(MPL):c.793C>T (p.Leu265Phe)	SNV Germline	Chr1:43340066	Conflicting classifications of pathogenicity	not specified Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA160838	rs_117656396	6 SubmittersRCV000121547 RCV000665912 RCV000863056 RCV004791272 RCV005430165
NM_005373.3(MPL):c.754T>C (p.Tyr252His)	SNV Germline	Chr1:43340027	Conflicting classifications of pathogenicity	not specified Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Conflicting Classifications	CA160844	rs_141311765	5 SubmittersRCV000121549 RCV000778239 RCV000860830
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)	SNV Germline	Chr1:43346527	Conflicting classifications of pathogenicity	not specified Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Abnormal bleeding Thrombocytopenia MPL-related disorder Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA160853	rs_546510242	7 SubmittersRCV000121552 RCV000670806 RCV000867193 RCV001270539 RCV004542901 RCV005430497
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	SNV Germline	Chr1:43346566	Conflicting classifications of pathogenicity	not specified Congenital amegakaryocytic thrombocytopenia Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA160859	rs_149810307	9 SubmittersRCV000121554 RCV000315154 RCV000400513 RCV001246816 RCV001358413 RCV005430498
NM_005373.3(MPL):c.79+2T>A	SNV Germline	Chr1:43337929	Pathogenic/Likely pathogenic	Condition: not provided not specified MPL-related disorder Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Thrombocytopenia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA163017	rs_146249964	16 SubmittersRCV000254762 RCV000122423 RCV000778237 RCV000801559 RCV000851882 RCV000586535 RCV001330057 RCV004786384 RCV005003486
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	SNV Germline	Chr1:43338646	Pathogenic/Likely pathogenic	Condition: not provided Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Thrombocythemia 2 MPL-related disorder Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis	Criteria Provided Multiple Submitters No Conflicts	CA806636	rs_750046020	10 SubmittersRCV000255329 RCV000814672 RCV001731468 RCV004542964 RCV002250607 RCV003992253 RCV005003596
NM_005373.3(MPL):c.196C>T (p.Leu66=)	SNV Germline	Chr1:43338215	Conflicting classifications of pathogenicity	Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Conflicting Classifications	CA10609987	rs_886046349	2 SubmittersRCV000301346 RCV000356128 RCV002059483
NM_005373.3(MPL):c.854-3T>C	SNV Germline	Chr1:43340384	Conflicting classifications of pathogenicity	Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia	Criteria Provided Conflicting Classifications	CA806767	rs_201514537	1 SubmittersRCV000288318 RCV000343418
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)	SNV Germline	Chr1:43346467	Conflicting classifications of pathogenicity	Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia MPL-related disorder Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided	Criteria Provided Conflicting Classifications	CA806813	rs_139770726	5 SubmittersRCV000339711 RCV000394158 RCV004537670 RCV002522129 RCV003129824
NM_005373.3(MPL):c.1654-10T>A	SNV Germline	Chr1:43352508	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Thrombocythemia 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA807005	rs_200460456	10 SubmittersRCV000309183 RCV000464665 RCV000390481 RCV001356726 RCV001820856
NM_005373.3(MPL):c.*1674A>T	SNV Germline	Chr1:43354446	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Thrombocythemia 1	Criteria Provided Conflicting Classifications	CA10610313	rs_536844021	1 SubmittersRCV000294666 RCV000351856
NM_005373.3(MPL):c.690+11C>T	SNV Germline	Chr1:43339580	Conflicting classifications of pathogenicity	Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Conflicting Classifications	CA806718	rs_144769485	2 SubmittersRCV000328339 RCV000382787 RCV002059484
NM_005373.3(MPL):c.1467C>T (p.Thr489=)	SNV Germline	Chr1:43349001	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia MPL-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA806900	rs_759161511	5 SubmittersRCV000321411 RCV000376584 RCV000863244 RCV004537672 RCV003409452
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)	SNV Germline	Chr1:43352259	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Thrombocythemia 1 Condition: not provided Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Conflicting Classifications	CA806970	rs_148784027	4 SubmittersRCV000352022 RCV000397980 RCV003409454 RCV001245598
NM_005373.3(MPL):c.*400C>T	SNV Germline	Chr1:43353172	Conflicting classifications of pathogenicity	Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia	Criteria Provided Conflicting Classifications	CA10611257	rs_558390922	1 SubmittersRCV000294560 RCV000351766
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	SNV Germline	Chr1:43338146	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia MPL-related disorder Thrombocythemia 2 Condition: not provided Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA806582	rs_148434485	11 SubmittersRCV001248333 RCV000411190 RCV000778238 RCV004786674 RCV001782878 RCV005027466 RCV005411420
NM_005373.3(MPL):c.391+5G>C	SNV Germline	Chr1:43338725	Conflicting classifications of pathogenicity	Condition: not provided not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2	Criteria Provided Conflicting Classifications	CA806646	rs_752453717	6 SubmittersRCV000414099 RCV000825643 RCV001042667 RCV005018707
NM_005373.3(MPL):c.1468+2T>C	SNV Germline	Chr1:43349004	Pathogenic/Likely pathogenic	Condition: not provided Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Multiple Submitters No Conflicts	CA16042320	rs_1057517761	2 SubmittersRCV000412964 RCV002524635
NM_005373.3(MPL):c.173C>T (p.Ala58Val)	SNV Germline	Chr1:43338192	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2 Primary myelofibrosis MPL-related disorder Thrombocythemia 2 Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA806590	rs_6087	5 SubmittersRCV001272210 RCV003153643 RCV002481475 RCV004735544 RCV005398639
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)	SNV Germline	Chr1:43346929	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339983781	rs_1553128241	1 SubmittersRCV000501453
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)	SNV Germline	Chr1:43348870	Conflicting classifications of pathogenicity	not specified Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia MPL-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA806882	rs_561818288	5 SubmittersRCV000499546 RCV001829428 RCV001326177 RCV004541563 RCV004691242
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)	SNV Germline	Chr1:43348956	Pathogenic	MPL-related disorder Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA806891	rs_754859909	4 SubmittersRCV000778241 RCV001055113 RCV001816834 RCV004800580
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter)	SNV Germline	Chr1:43352638	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA807023	rs_755447085	3 SubmittersRCV002536728 RCV005021159 RCV005358030
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)	SNV Germline	Chr1:43338633	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA806632	rs_763568293	4 SubmittersRCV000798314 RCV001272212 RCV004789195
NM_005373.3(MPL):c.311T>C (p.Phe104Ser)	SNV Germline	Chr1:43338640	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2 Primary myelofibrosis	Criteria Provided Multiple Submitters No Conflicts	CA339973608	rs_1196161699	2 SubmittersRCV000809390 RCV005029492
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)	SNV Germline	Chr1:43346533	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA806823	rs_751975712	2 SubmittersRCV000818204 RCV001420932
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter)	SNV Germline	Chr1:43346820	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339982546	rs_1570470199	1 SubmittersRCV000818119
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter)	SNV Germline	Chr1:43348996	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339987124	rs_1302209849	1 SubmittersRCV000813136
NM_005373.3(MPL):c.981-1G>C	SNV Germline	Chr1:43346444	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2 Primary myelofibrosis	Criteria Provided Multiple Submitters No Conflicts	CA806807	rs_769297582	4 SubmittersRCV000824356 RCV001825676 RCV005004456
NM_005373.3(MPL):c.273C>T (p.Tyr91=)	SNV Germline	Chr1:43338602	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided	Criteria Provided Conflicting Classifications	CA806628	rs_759361904	3 SubmittersRCV000868773 RCV001272211 RCV003442127
NM_005373.3(MPL):c.391G>A (p.Gly131Ser)	SNV Unknown	Chr1:43338720	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	No Assertion Criteria Provided	CA339974135	rs_775250202	1 SubmittersRCV001003895
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)	SNV Germline	Chr1:43346873	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339983089	rs_1647059649	1 SubmittersRCV001061249
NM_005373.3(MPL):c.1165+1G>C	SNV Germline	Chr1:43346630	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA806833	rs_775550081	1 SubmittersRCV001035124
NM_005373.3(MPL):c.1527C>A (p.Gly509=)	SNV Germline	Chr1:43349321	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Conflicting Classifications	CA417547162	rs_1570472144	2 SubmittersRCV001102306 RCV003769073
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)	SNV Germline	Chr1:43338208	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Condition: not provided Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Multiple Submitters No Conflicts	CA339973030	rs_1373623383	3 SubmittersRCV001174802 RCV001819878 RCV003769858
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)	SNV Germline	Chr1:43346896	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339983414	rs_1647060064	1 SubmittersRCV001220159
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)	SNV Germline	Chr1:43348882	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339985857	rs_1647073222	1 SubmittersRCV001219121
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)	SNV Germline	Chr1:43338597	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2 Primary myelofibrosis	Criteria Provided Multiple Submitters No Conflicts	CA806625	rs_763144679	5 SubmittersRCV001229853 RCV001251410 RCV004697083 RCV005014271
NM_005373.3(MPL):c.98C>A (p.Ser33Ter)	SNV Unknown	Chr1:43338117	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339972534	rs_1228227826	1 SubmittersRCV001263971
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)	SNV Germline	Chr1:43338543	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA339973225	rs_1406715863	2 SubmittersRCV001263972 RCV001383285
NM_005373.3(MPL):c.244C>T (p.Gln82Ter)	SNV Unknown	Chr1:43338573	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339973379	rs_1647009785	1 SubmittersRCV001263973
NM_005373.3(MPL):c.280C>T (p.Gln94Ter)	SNV Unknown	Chr1:43338609	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339973470	rs_1647010155	1 SubmittersRCV001263974
NM_005373.3(MPL):c.461G>A (p.Trp154Ter)	SNV Unknown	Chr1:43339340	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339974478	rs_1647014537	1 SubmittersRCV001263975
NM_005373.3(MPL):c.695C>A (p.Ser232Ter)	SNV Germline	Chr1:43339968	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA339976052	rs_1647019292	2 SubmittersRCV001263976 RCV005213510
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter)	SNV Unknown	Chr1:43340029	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339976672	rs_1647019645	1 SubmittersRCV001263977
NM_005373.3(MPL):c.758G>A (p.Trp253Ter)	SNV Unknown	Chr1:43340031	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339976684	rs_1647019692	1 SubmittersRCV001264136
NM_005373.3(MPL):c.763C>T (p.Gln255Ter)	SNV Unknown	Chr1:43340036	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339976705	rs_771519257	1 SubmittersRCV001264137
NM_005373.3(MPL):c.807G>A (p.Trp269Ter)	SNV Germline	Chr1:43340080	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA339976887	rs_1647020318	2 SubmittersRCV001264138 RCV003770375
NM_005373.3(MPL):c.815G>A (p.Trp272Ter)	SNV Unknown	Chr1:43340088	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339976923	rs_760059307	1 SubmittersRCV001264139
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter)	SNV Unknown	Chr1:43346467	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339980866	rs_139770726	1 SubmittersRCV001264140
NM_005373.3(MPL):c.305G>A (p.Arg102His)	SNV Germline	Chr1:43338634	Likely pathogenic	Thrombocytopenia Abnormal bleeding Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339973584	rs_28928907	2 SubmittersRCV001270587 RCV001880205
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)	SNV Germline	Chr1:43339985	Conflicting classifications of pathogenicity	Thrombocytopenia Abnormal bleeding Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA806737	rs_144210383	3 SubmittersRCV001270506 RCV002537729 RCV004789508
NM_005373.3(MPL):c.1309-1G>T	SNV Germline	Chr1:43348842	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339985370	rs_1243113655	2 SubmittersRCV001377235 RCV001831336
NM_005373.3(MPL):c.1469-1G>T	SNV Germline	Chr1:43349262	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339987325	rs_771729218	1 SubmittersRCV001378787
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)	SNV Germline	Chr1:43338602	Pathogenic/Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia MPL-related disorder Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis	Criteria Provided Multiple Submitters No Conflicts	CA339973442	rs_759361904	3 SubmittersRCV001381626 RCV004545220 RCV005023133
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)	SNV Germline	Chr1:43346506	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339981191	rs_1355966040	1 SubmittersRCV001384719
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter)	SNV Germline	Chr1:43346902	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA806863	rs_753018650	1 SubmittersRCV001380246
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)	SNV Germline	Chr1:43349357	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339988340	rs_1392072769	1 SubmittersRCV001385395
NM_005373.3(MPL):c.1488C>T (p.Thr496=)	SNV Germline	Chr1:43349282	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia MPL-related disorder Condition: not provided Congenital amegakaryocytic thrombocytopenia	Criteria Provided Conflicting Classifications	CA806923	rs_140091584	4 SubmittersRCV001391694 RCV004545225 RCV003132494 RCV001836393
NM_005373.3(MPL):c.1566-7C>T	SNV Germline	Chr1:43352209	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided	Criteria Provided Conflicting Classifications	CA21616270	rs_375344403	2 SubmittersRCV001433551 RCV003405660
NM_005373.3(MPL):c.1359G>A (p.Pro453=)	SNV Germline	Chr1:43348893	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia not specified	Criteria Provided Conflicting Classifications	CA417424826	rs_1262936822	2 SubmittersRCV001469287 RCV001820162
NM_005373.3(MPL):c.1670C>A (p.Ser557Ter)	SNV Germline	Chr1:43352534	Pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339993171	rs_2153920030	1 SubmittersRCV001638192
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)	SNV Germline	Chr1:43338696	Pathogenic	Congenital amegakaryocytic thrombocytopenia Condition: not provided Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA339973978	rs_1443655691	4 SubmittersRCV001733392 RCV001821972 RCV002488495 RCV002538718
NM_005373.3(MPL):c.1468+1G>C	SNV Germline	Chr1:43349003	Pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339987174	rs_2153919319	1 SubmittersRCV001775450
NM_005373.3(MPL):c.212+1G>A	SNV Germline	Chr1:43338232	Conflicting classifications of pathogenicity	Condition: not provided Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Conflicting Classifications	CA806597	rs_142565191	2 SubmittersRCV003325580 RCV001885187
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	SNV Germline	Chr1:43339339	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis MPL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA806682	rs_758428763	3 SubmittersRCV002025904 RCV002486650 RCV004538731
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter)	SNV Germline	Chr1:43346874	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339983097	rs_2153918792	1 SubmittersRCV002002121
NM_005373.3(MPL):c.1166-1G>C	SNV Germline	Chr1:43346791	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts	CA339982353	rs_2153918730	2 SubmittersRCV002048862 RCV005017099
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter)	SNV Germline	Chr1:43348912	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339986244	rs_1469739934	1 SubmittersRCV001969972
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter)	SNV Germline	Chr1:43346845	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339982740	rs_2153918764	1 SubmittersRCV001970102
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter)	SNV Germline	Chr1:43349340	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339988093	rs_2153919438	1 SubmittersRCV001972624
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter)	SNV Germline	Chr1:43338208	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339973032	rs_1373623383	1 SubmittersRCV001953845
NM_005373.3(MPL):c.980+2T>A	SNV Germline	Chr1:43340515	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339978309	rs_1647023010	1 SubmittersRCV002045066
NM_005373.3(MPL):c.190C>T (p.Gln64Ter)	SNV Germline	Chr1:43338209	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339973040	rs_2153916273	1 SubmittersRCV002002275
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)	SNV Germline	Chr1:43348965	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts	CA339986891	rs_1169744090	2 SubmittersRCV001941570 RCV002507695
NM_005373.3(MPL):c.407C>A (p.Pro136His)	SNV Germline	Chr1:43339286	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Primary myelofibrosis Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA806671	rs_764904424	2 SubmittersRCV001891969 RCV005016728
NM_005373.3(MPL):c.478G>T (p.Glu160Ter)	SNV Germline	Chr1:43339357	Pathogenic/Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA806685	rs_768536266	2 SubmittersRCV001923431 RCV005361824
NM_005373.3(MPL):c.690+2T>A	SNV Germline	Chr1:43339571	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339974974	rs_2153916885	1 SubmittersRCV002003697
NM_005373.3(MPL):c.79+1G>T	SNV Germline	Chr1:43337928	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339972322	rs_1647004958	1 SubmittersRCV001980621
NM_005373.3(MPL):c.1566-1G>A	SNV Germline	Chr1:43352215	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts	CA339991842	rs_1570474015	2 SubmittersRCV002012532 RCV002497985
NM_005373.3(MPL):c.579C>A (p.Cys193Ter)	SNV Unknown	Chr1:43339458	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339974732	rs_747962998	1 SubmittersRCV002308069
NM_005373.3(MPL):c.973A>T (p.Arg325Ter)	SNV Unknown	Chr1:43340506	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339978240	rs_1647022933	1 SubmittersRCV002309142
NM_005373.3(MPL):c.992G>A (p.Trp331Ter)	SNV Unknown	Chr1:43346456	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339980713	rs_2545682324	1 SubmittersRCV002309307
NM_005373.3(MPL):c.292C>T (p.Gln98Ter)	SNV Unknown	Chr1:43338621	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339973526	rs_752682807	1 SubmittersRCV002307031
NM_005373.3(MPL):c.731C>A (p.Ser244Ter)	SNV Unknown	Chr1:43340004	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339976451	rs_2153917033	1 SubmittersRCV002310155
NM_005373.3(MPL):c.155G>A (p.Trp52Ter)	SNV Unknown	Chr1:43338174	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339972846	rs_2545673744	1 SubmittersRCV002308412
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)	SNV Germline	Chr1:43352548	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339993295	rs_2545689094	1 SubmittersRCV002591686
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)	SNV Germline	Chr1:43337905	Conflicting classifications of pathogenicity	Inborn genetic diseases Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Conflicting Classifications	CA806552	rs_752706183	2 SubmittersRCV002875591 RCV002852457
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)	SNV Germline	Chr1:43346931	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA21610858	rs_1006158872	2 SubmittersRCV002913014 RCV003491161
NM_005373.3(MPL):c.1469-2A>T	SNV Germline	Chr1:43349261	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339987289	rs_2153919390	1 SubmittersRCV002957836
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)	SNV Germline	Chr1:43340481	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339977942	rs_2153917236	1 SubmittersRCV003040348
NM_005373.3(MPL):c.873C>A (p.Cys291Ter)	SNV Germline	Chr1:43340406	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339977198	rs_2545677417	1 SubmittersRCV003044735
NM_005373.3(MPL):c.1653+2T>C	SNV Germline	Chr1:43352305	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339992902	rs_1257156248	1 SubmittersRCV003155868
NM_005373.3(MPL):c.205T>C (p.Tyr69His)	SNV Germline	Chr1:43338224	Pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339973116	rs_1439788842	1 SubmittersRCV003154843
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)	SNV Germline	Chr1:43352239	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Conflicting Classifications	CA806967	rs_775704066	2 SubmittersRCV003154845 RCV004771539
NM_005373.3(MPL):c.761T>C (p.Leu254Pro)	SNV Germline	Chr1:43340034	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339976699	rs_2545676752	1 SubmittersRCV003154846
NM_005373.3(MPL):c.1277G>C (p.Arg426Pro)	SNV Germline	Chr1:43346903	Pathogenic	Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339983477	rs_200454070	1 SubmittersRCV003154847
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)	SNV Germline	Chr1:43339286	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2 Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA339974309	rs_764904424	3 SubmittersRCV003154848 RCV004763608 RCV005029924
NM_005373.3(MPL):c.1308+2T>G	SNV Germline	Chr1:43346936	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339983899	rs_1570470323	1 SubmittersRCV003785614
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)	SNV Germline	Chr1:43348964	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339986869	rs_1647074009	1 SubmittersRCV003786065
NM_005373.3(MPL):c.690+2T>C	SNV Germline	Chr1:43339571	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339974975	rs_2153916885	1 SubmittersRCV003793504
NM_005373.3(MPL):c.213-1G>A	SNV Germline	Chr1:43338541	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA21607175	rs_867404262	1 SubmittersRCV003780945
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)	SNV Germline	Chr1:43346497	Pathogenic/Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts	CA339981113	rs_2153918515	2 SubmittersRCV003786878 RCV005014962
NM_005373.3(MPL):c.79+1G>A	SNV Germline	Chr1:43337928	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339972326	rs_1647004958	1 SubmittersRCV003807894
NM_005373.3(MPL):c.1468+1G>A	SNV Germline	Chr1:43349003	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339987173	rs_2153919319	1 SubmittersRCV003791499
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)	SNV Germline	Chr1:43337859	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA806550	rs_755410233	1 SubmittersRCV003799488
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)	SNV Germline	Chr1:43338108	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339972491	rs_2545673631	1 SubmittersRCV003803808
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)	SNV Germline	Chr1:43339461	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA806706	rs_769674316	1 SubmittersRCV003796758
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)	SNV Germline	Chr1:43346857	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339982888	rs_2153918774	1 SubmittersRCV003796998
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)	SNV Germline	Chr1:43339982	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339976211	rs_765133601	1 SubmittersRCV003800457
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)	SNV Germline	Chr1:43346479	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA339980944	rs_2153918495	1 SubmittersRCV003801902
NM_005373.3(MPL):c.854-1G>A	SNV Germline	Chr1:43340386	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA339977127	rs_2545677389	1 SubmittersRCV003813549
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)	SNV Germline	Chr1:43340449	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter	CA21608238	rs_751677429	1 SubmittersRCV003809398
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)	SNV Germline	Chr1:43339286	Pathogenic/Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA339974311	rs_764904424	2 SubmittersRCV003815415 RCV005433471
NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)	SNV Germline	Chr1:43349339	Likely pathogenic	Condition: not provided Congenital amegakaryocytic thrombocytopenia 1 Thrombocythemia 2 Primary myelofibrosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004719537 RCV005017222
NM_005373.3(MPL):c.391G>C (p.Gly131Arg)	SNV Germline	Chr1:43338720	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Single Submitter			1 SubmittersRCV004771730
NM_005373.3(MPL):c.690+1G>A	SNV Germline	Chr1:43339570	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2	Criteria Provided Single Submitter			1 SubmittersRCV005016002
NM_005373.3(MPL):c.733G>T (p.Gly245Ter)	SNV Germline	Chr1:43340006	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2	Criteria Provided Single Submitter			1 SubmittersRCV005028776
NM_005373.3(MPL):c.775G>T (p.Glu259Ter)	SNV Germline	Chr1:43340048	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2	Criteria Provided Single Submitter			1 SubmittersRCV005016012
NM_005373.3(MPL):c.981-1G>T	SNV Germline	Chr1:43346444	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2	Criteria Provided Single Submitter			1 SubmittersRCV005016031
NM_005373.3(MPL):c.1653+1G>C	SNV Germline	Chr1:43352304	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2	Criteria Provided Single Submitter			1 SubmittersRCV005016064
NM_005373.3(MPL):c.1654-1G>A	SNV Germline	Chr1:43352517	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Thrombocythemia 2	Criteria Provided Single Submitter			1 SubmittersRCV005028816
NM_005373.3(MPL):c.1680T>A (p.Cys560Ter)	SNV Germline	Chr1:43352544	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV005217453
NM_005373.3(MPL):c.1908A>G (p.Ter636Trp)	SNV Germline	Chr1:43352772	Conflicting classifications of pathogenicity	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV005228830 RCV005430974
NM_005373.3(MPL):c.853+1G>A	SNV Germline	Chr1:43340127	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV005217208
NM_005373.3(MPL):c.691-2A>G	SNV Germline	Chr1:43339962	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	No Assertion Criteria Provided			1 SubmittersRCV005605202
NM_005373.3(MPL):c.806G>A (p.Trp269Ter)	SNV Germline	Chr1:43340079	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia	No Assertion Criteria Provided			1 SubmittersRCV005605205

SNV
Germline

Chr1:43339435

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA123771

rs_121913610

3 SubmittersRCV000015217 RCV005025056 RCV004558254

NM_005373.3(MPL):c.769C>T (p.Arg257Cys)

SNV
Germline

Chr1:43340042

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA123774

rs_121913611

8 SubmittersRCV000015219 RCV001818159 RCV001038272 RCV004558256 RCV005025057

NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)

SNV
Germline

Chr1:43352768

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA123777

rs_121913612

4 SubmittersRCV000015220 RCV001378786 RCV005016267 RCV004558257

NM_005373.3(MPL):c.305G>C (p.Arg102Pro)

SNV
Germline

Chr1:43338634

Pathogenic

Congenital amegakaryocytic thrombocytopenia
not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA123780

rs_28928907

20 SubmittersRCV000015221 RCV000121539 RCV000792211 RCV000852103 RCV001091414 RCV004558258 RCV005003358

NM_005373.3(MPL):c.1473G>A (p.Trp491Ter)

SNV
Germline

Chr1:43349267

Pathogenic

Congenital amegakaryocytic thrombocytopenia 1

No Assertion Criteria Provided

CA123782

rs_121913613

1 SubmittersRCV004558259

NM_005373.3(MPL):c.1566-1G>T

SNV
Germline

Chr1:43352215

Pathogenic

Congenital amegakaryocytic thrombocytopenia 1

No Assertion Criteria Provided

CA339991849

rs_1570474015

1 SubmittersRCV004558260

NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)

SNV
Germline

Chr1:43349308

Pathogenic

Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA123790

rs_121913614

4 SubmittersRCV000015226 RCV005606635 RCV001543455

NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)

SNV
Germline/somatic

Chr1:43349338

Conflicting classifications of pathogenicity

Myelofibrosis with myeloid metaplasia
Thrombocythemia 2, somatic
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Conflicting Classifications

CA123792

rs_121913615

3 SubmittersRCV000015227 RCV000022668 RCV000501989 RCV001361128

NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr1:43352271

Pathogenic

not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder

Criteria Provided
Single Submitter

CA160807

rs_369156948

3 SubmittersRCV000121532 RCV001854660 RCV004734658

NM_005373.3(MPL):c.340G>A (p.Val114Met)

SNV
Germline

Chr1:43338669

Conflicting classifications of pathogenicity

not specified
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA160821

rs_12731981

13 SubmittersRCV000121540 RCV000371334 RCV000467700 RCV001594849 RCV005430163

NM_005373.3(MPL):c.655C>G (p.Gln219Glu)

SNV
Germline

Chr1:43339534

Conflicting classifications of pathogenicity

not specified
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided
MPL-related disorder
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA160831

rs_142737453

7 SubmittersRCV000121544 RCV000796648 RCV000665815 RCV003407517 RCV004734659 RCV005430164

NM_005373.3(MPL):c.793C>T (p.Leu265Phe)

SNV
Germline

Chr1:43340066

Conflicting classifications of pathogenicity

not specified
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA160838

rs_117656396

6 SubmittersRCV000121547 RCV000665912 RCV000863056 RCV004791272 RCV005430165

NM_005373.3(MPL):c.754T>C (p.Tyr252His)

SNV
Germline

Chr1:43340027

Conflicting classifications of pathogenicity

not specified
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Conflicting Classifications

CA160844

rs_141311765

5 SubmittersRCV000121549 RCV000778239 RCV000860830

NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)

SNV
Germline

Chr1:43346527

Conflicting classifications of pathogenicity

not specified
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Abnormal bleeding
Thrombocytopenia
MPL-related disorder
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA160853

rs_546510242

7 SubmittersRCV000121552 RCV000670806 RCV000867193 RCV001270539 RCV004542901 RCV005430497

NM_005373.3(MPL):c.1102G>T (p.Val368Leu)

SNV
Germline

Chr1:43346566

Conflicting classifications of pathogenicity

not specified
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA160859

rs_149810307

9 SubmittersRCV000121554 RCV000315154 RCV000400513 RCV001246816 RCV001358413 RCV005430498

NM_005373.3(MPL):c.79+2T>A

SNV
Germline

Chr1:43337929

Pathogenic/Likely pathogenic

Condition: not provided
not specified
MPL-related disorder
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA163017

rs_146249964

16 SubmittersRCV000254762 RCV000122423 RCV000778237 RCV000801559 RCV000851882 RCV000586535 RCV001330057 RCV004786384 RCV005003486

NM_005373.3(MPL):c.317C>T (p.Pro106Leu)

SNV
Germline

Chr1:43338646

Pathogenic/Likely pathogenic

Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocythemia 2
MPL-related disorder
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA806636

rs_750046020

10 SubmittersRCV000255329 RCV000814672 RCV001731468 RCV004542964 RCV002250607 RCV003992253 RCV005003596

NM_005373.3(MPL):c.196C>T (p.Leu66=)

SNV
Germline

Chr1:43338215

Conflicting classifications of pathogenicity

Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Conflicting Classifications

CA10609987

rs_886046349

2 SubmittersRCV000301346 RCV000356128 RCV002059483

NM_005373.3(MPL):c.854-3T>C

SNV
Germline

Chr1:43340384

Conflicting classifications of pathogenicity

Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Conflicting Classifications

CA806767

rs_201514537

1 SubmittersRCV000288318 RCV000343418

NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)

SNV
Germline

Chr1:43346467

Conflicting classifications of pathogenicity

Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
MPL-related disorder
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA806813

rs_139770726

5 SubmittersRCV000339711 RCV000394158 RCV004537670 RCV002522129 RCV003129824

NM_005373.3(MPL):c.1654-10T>A

SNV
Germline

Chr1:43352508

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocythemia 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA807005

rs_200460456

10 SubmittersRCV000309183 RCV000464665 RCV000390481 RCV001356726 RCV001820856

NM_005373.3(MPL):c.*1674A>T

SNV
Germline

Chr1:43354446

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1

Criteria Provided
Conflicting Classifications

CA10610313

rs_536844021

1 SubmittersRCV000294666 RCV000351856

NM_005373.3(MPL):c.690+11C>T

SNV
Germline

Chr1:43339580

Conflicting classifications of pathogenicity

Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Conflicting Classifications

CA806718

rs_144769485

2 SubmittersRCV000328339 RCV000382787 RCV002059484

NM_005373.3(MPL):c.1467C>T (p.Thr489=)

SNV
Germline

Chr1:43349001

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA806900

rs_759161511

5 SubmittersRCV000321411 RCV000376584 RCV000863244 RCV004537672 RCV003409452

NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)

SNV
Germline

Chr1:43352259

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1
Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Conflicting Classifications

CA806970

rs_148784027

4 SubmittersRCV000352022 RCV000397980 RCV003409454 RCV001245598

NM_005373.3(MPL):c.*400C>T

SNV
Germline

Chr1:43353172

Conflicting classifications of pathogenicity

Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Conflicting Classifications

CA10611257

rs_558390922

1 SubmittersRCV000294560 RCV000351766

NM_005373.3(MPL):c.127C>T (p.Arg43Ter)

SNV
Germline

Chr1:43338146

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
MPL-related disorder
Thrombocythemia 2
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA806582

rs_148434485

11 SubmittersRCV001248333 RCV000411190 RCV000778238 RCV004786674 RCV001782878 RCV005027466 RCV005411420

NM_005373.3(MPL):c.391+5G>C

SNV
Germline

Chr1:43338725

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2

Criteria Provided
Conflicting Classifications

CA806646

rs_752453717

6 SubmittersRCV000414099 RCV000825643 RCV001042667 RCV005018707

NM_005373.3(MPL):c.1468+2T>C

SNV
Germline

Chr1:43349004

Pathogenic/Likely pathogenic

Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16042320

rs_1057517761

2 SubmittersRCV000412964 RCV002524635

NM_005373.3(MPL):c.173C>T (p.Ala58Val)

SNV
Germline

Chr1:43338192

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2
Primary myelofibrosis
MPL-related disorder
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA806590

rs_6087

5 SubmittersRCV001272210 RCV003153643 RCV002481475 RCV004735544 RCV005398639

NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)

SNV
Germline

Chr1:43346929

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339983781

rs_1553128241

1 SubmittersRCV000501453

NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)

SNV
Germline

Chr1:43348870

Conflicting classifications of pathogenicity

not specified
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA806882

rs_561818288

5 SubmittersRCV000499546 RCV001829428 RCV001326177 RCV004541563 RCV004691242

NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)

SNV
Germline

Chr1:43348956

Pathogenic

MPL-related disorder
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA806891

rs_754859909

4 SubmittersRCV000778241 RCV001055113 RCV001816834 RCV004800580

NM_005373.3(MPL):c.1774C>T (p.Arg592Ter)

SNV
Germline

Chr1:43352638

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA807023

rs_755447085

3 SubmittersRCV002536728 RCV005021159 RCV005358030

NM_005373.3(MPL):c.304C>T (p.Arg102Cys)

SNV
Germline

Chr1:43338633

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA806632

rs_763568293

4 SubmittersRCV000798314 RCV001272212 RCV004789195

NM_005373.3(MPL):c.311T>C (p.Phe104Ser)

SNV
Germline

Chr1:43338640

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA339973608

rs_1196161699

2 SubmittersRCV000809390 RCV005029492

NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)

SNV
Germline

Chr1:43346533

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA806823

rs_751975712

2 SubmittersRCV000818204 RCV001420932

NM_005373.3(MPL):c.1194G>A (p.Trp398Ter)

SNV
Germline

Chr1:43346820

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339982546

rs_1570470199

1 SubmittersRCV000818119

NM_005373.3(MPL):c.1462G>T (p.Glu488Ter)

SNV
Germline

Chr1:43348996

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339987124

rs_1302209849

1 SubmittersRCV000813136

NM_005373.3(MPL):c.981-1G>C

SNV
Germline

Chr1:43346444

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA806807

rs_769297582

4 SubmittersRCV000824356 RCV001825676 RCV005004456

NM_005373.3(MPL):c.273C>T (p.Tyr91=)

SNV
Germline

Chr1:43338602

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA806628

rs_759361904

3 SubmittersRCV000868773 RCV001272211 RCV003442127

NM_005373.3(MPL):c.391G>A (p.Gly131Ser)

SNV
Unknown

Chr1:43338720

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

No Assertion Criteria Provided

CA339974135

rs_775250202

1 SubmittersRCV001003895

NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)

SNV
Germline

Chr1:43346873

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339983089

rs_1647059649

1 SubmittersRCV001061249

NM_005373.3(MPL):c.1165+1G>C

SNV
Germline

Chr1:43346630

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA806833

rs_775550081

1 SubmittersRCV001035124

NM_005373.3(MPL):c.1527C>A (p.Gly509=)

SNV
Germline

Chr1:43349321

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Conflicting Classifications

CA417547162

rs_1570472144

2 SubmittersRCV001102306 RCV003769073

NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)

SNV
Germline

Chr1:43338208

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA339973030

rs_1373623383

3 SubmittersRCV001174802 RCV001819878 RCV003769858

NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)

SNV
Germline

Chr1:43346896

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339983414

rs_1647060064

1 SubmittersRCV001220159

NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)

SNV
Germline

Chr1:43348882

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339985857

rs_1647073222

1 SubmittersRCV001219121

NM_005373.3(MPL):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr1:43338597

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA806625

rs_763144679

5 SubmittersRCV001229853 RCV001251410 RCV004697083 RCV005014271

NM_005373.3(MPL):c.98C>A (p.Ser33Ter)

SNV
Unknown

Chr1:43338117

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339972534

rs_1228227826

1 SubmittersRCV001263971

NM_005373.3(MPL):c.214G>T (p.Glu72Ter)

SNV
Germline

Chr1:43338543

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA339973225

rs_1406715863

2 SubmittersRCV001263972 RCV001383285

NM_005373.3(MPL):c.244C>T (p.Gln82Ter)

SNV
Unknown

Chr1:43338573

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339973379

rs_1647009785

1 SubmittersRCV001263973

NM_005373.3(MPL):c.280C>T (p.Gln94Ter)

SNV
Unknown

Chr1:43338609

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339973470

rs_1647010155

1 SubmittersRCV001263974

NM_005373.3(MPL):c.461G>A (p.Trp154Ter)

SNV
Unknown

Chr1:43339340

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339974478

rs_1647014537

1 SubmittersRCV001263975

NM_005373.3(MPL):c.695C>A (p.Ser232Ter)

SNV
Germline

Chr1:43339968

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA339976052

rs_1647019292

2 SubmittersRCV001263976 RCV005213510

NM_005373.3(MPL):c.756C>A (p.Tyr252Ter)

SNV
Unknown

Chr1:43340029

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339976672

rs_1647019645

1 SubmittersRCV001263977

NM_005373.3(MPL):c.758G>A (p.Trp253Ter)

SNV
Unknown

Chr1:43340031

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339976684

rs_1647019692

1 SubmittersRCV001264136

NM_005373.3(MPL):c.763C>T (p.Gln255Ter)

SNV
Unknown

Chr1:43340036

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339976705

rs_771519257

1 SubmittersRCV001264137

NM_005373.3(MPL):c.807G>A (p.Trp269Ter)

SNV
Germline

Chr1:43340080

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA339976887

rs_1647020318

2 SubmittersRCV001264138 RCV003770375

NM_005373.3(MPL):c.815G>A (p.Trp272Ter)

SNV
Unknown

Chr1:43340088

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339976923

rs_760059307

1 SubmittersRCV001264139

NM_005373.3(MPL):c.1003G>T (p.Glu335Ter)

SNV
Unknown

Chr1:43346467

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339980866

rs_139770726

1 SubmittersRCV001264140

NM_005373.3(MPL):c.305G>A (p.Arg102His)

SNV
Germline

Chr1:43338634

Likely pathogenic

Thrombocytopenia
Abnormal bleeding
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339973584

rs_28928907

2 SubmittersRCV001270587 RCV001880205

NM_005373.3(MPL):c.712G>T (p.Gly238Cys)

SNV
Germline

Chr1:43339985

Conflicting classifications of pathogenicity

Thrombocytopenia
Abnormal bleeding
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA806737

rs_144210383

3 SubmittersRCV001270506 RCV002537729 RCV004789508

NM_005373.3(MPL):c.1309-1G>T

SNV
Germline

Chr1:43348842

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339985370

rs_1243113655

2 SubmittersRCV001377235 RCV001831336

NM_005373.3(MPL):c.1469-1G>T

SNV
Germline

Chr1:43349262

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339987325

rs_771729218

1 SubmittersRCV001378787

NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)

SNV
Germline

Chr1:43338602

Pathogenic/Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
MPL-related disorder
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA339973442

rs_759361904

3 SubmittersRCV001381626 RCV004545220 RCV005023133

NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr1:43346506

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339981191

rs_1355966040

1 SubmittersRCV001384719

NM_005373.3(MPL):c.1276C>T (p.Arg426Ter)

SNV
Germline

Chr1:43346902

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA806863

rs_753018650

1 SubmittersRCV001380246

NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)

SNV
Germline

Chr1:43349357

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339988340

rs_1392072769

1 SubmittersRCV001385395

NM_005373.3(MPL):c.1488C>T (p.Thr496=)

SNV
Germline

Chr1:43349282

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder
Condition: not provided
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Conflicting Classifications

CA806923

rs_140091584

4 SubmittersRCV001391694 RCV004545225 RCV003132494 RCV001836393

NM_005373.3(MPL):c.1566-7C>T

SNV
Germline

Chr1:43352209

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA21616270

rs_375344403

2 SubmittersRCV001433551 RCV003405660

NM_005373.3(MPL):c.1359G>A (p.Pro453=)

SNV
Germline

Chr1:43348893

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
not specified

Criteria Provided
Conflicting Classifications

CA417424826

rs_1262936822

2 SubmittersRCV001469287 RCV001820162

NM_005373.3(MPL):c.1670C>A (p.Ser557Ter)

SNV
Germline

Chr1:43352534

Pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339993171

rs_2153920030

1 SubmittersRCV001638192

NM_005373.3(MPL):c.367C>T (p.Arg123Ter)

SNV
Germline

Chr1:43338696

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA339973978

rs_1443655691

4 SubmittersRCV001733392 RCV001821972 RCV002488495 RCV002538718

NM_005373.3(MPL):c.1468+1G>C

SNV
Germline

Chr1:43349003

Pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339987174

rs_2153919319

1 SubmittersRCV001775450

NM_005373.3(MPL):c.212+1G>A

SNV
Germline

Chr1:43338232

Conflicting classifications of pathogenicity

Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Conflicting Classifications

CA806597

rs_142565191

2 SubmittersRCV003325580 RCV001885187

NM_005373.3(MPL):c.460T>C (p.Trp154Arg)

SNV
Germline

Chr1:43339339

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
MPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA806682

rs_758428763

3 SubmittersRCV002025904 RCV002486650 RCV004538731

NM_005373.3(MPL):c.1248G>A (p.Trp416Ter)

SNV
Germline

Chr1:43346874

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339983097

rs_2153918792

1 SubmittersRCV002002121

NM_005373.3(MPL):c.1166-1G>C

SNV
Germline

Chr1:43346791

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA339982353

rs_2153918730

2 SubmittersRCV002048862 RCV005017099

NM_005373.3(MPL):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr1:43348912

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339986244

rs_1469739934

1 SubmittersRCV001969972

NM_005373.3(MPL):c.1219G>T (p.Glu407Ter)

SNV
Germline

Chr1:43346845

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339982740

rs_2153918764

1 SubmittersRCV001970102

NM_005373.3(MPL):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr1:43349340

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339988093

rs_2153919438

1 SubmittersRCV001972624

NM_005373.3(MPL):c.189C>G (p.Tyr63Ter)

SNV
Germline

Chr1:43338208

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339973032

rs_1373623383

1 SubmittersRCV001953845

NM_005373.3(MPL):c.980+2T>A

SNV
Germline

Chr1:43340515

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339978309

rs_1647023010

1 SubmittersRCV002045066

NM_005373.3(MPL):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr1:43338209

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339973040

rs_2153916273

1 SubmittersRCV002002275

NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)

SNV
Germline

Chr1:43348965

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA339986891

rs_1169744090

2 SubmittersRCV001941570 RCV002507695

NM_005373.3(MPL):c.407C>A (p.Pro136His)

SNV
Germline

Chr1:43339286

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Primary myelofibrosis
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA806671

rs_764904424

2 SubmittersRCV001891969 RCV005016728

NM_005373.3(MPL):c.478G>T (p.Glu160Ter)

SNV
Germline

Chr1:43339357

Pathogenic/Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA806685

rs_768536266

2 SubmittersRCV001923431 RCV005361824

NM_005373.3(MPL):c.690+2T>A

SNV
Germline

Chr1:43339571

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339974974

rs_2153916885

1 SubmittersRCV002003697

NM_005373.3(MPL):c.79+1G>T

SNV
Germline

Chr1:43337928

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339972322

rs_1647004958

1 SubmittersRCV001980621

NM_005373.3(MPL):c.1566-1G>A

SNV
Germline

Chr1:43352215

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA339991842

rs_1570474015

2 SubmittersRCV002012532 RCV002497985

NM_005373.3(MPL):c.579C>A (p.Cys193Ter)

SNV
Unknown

Chr1:43339458

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339974732

rs_747962998

1 SubmittersRCV002308069

NM_005373.3(MPL):c.973A>T (p.Arg325Ter)

SNV
Unknown

Chr1:43340506

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339978240

rs_1647022933

1 SubmittersRCV002309142

NM_005373.3(MPL):c.992G>A (p.Trp331Ter)

SNV
Unknown

Chr1:43346456

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339980713

rs_2545682324

1 SubmittersRCV002309307

NM_005373.3(MPL):c.292C>T (p.Gln98Ter)

SNV
Unknown

Chr1:43338621

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339973526

rs_752682807

1 SubmittersRCV002307031

NM_005373.3(MPL):c.731C>A (p.Ser244Ter)

SNV
Unknown

Chr1:43340004

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339976451

rs_2153917033

1 SubmittersRCV002310155

NM_005373.3(MPL):c.155G>A (p.Trp52Ter)

SNV
Unknown

Chr1:43338174

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339972846

rs_2545673744

1 SubmittersRCV002308412

NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)

SNV
Germline

Chr1:43352548

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339993295

rs_2545689094

1 SubmittersRCV002591686

NM_005373.3(MPL):c.57C>A (p.Asn19Lys)

SNV
Germline

Chr1:43337905

Conflicting classifications of pathogenicity

Inborn genetic diseases
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Conflicting Classifications

CA806552

rs_752706183

2 SubmittersRCV002875591 RCV002852457

NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)

SNV
Germline

Chr1:43346931

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA21610858

rs_1006158872

2 SubmittersRCV002913014 RCV003491161

NM_005373.3(MPL):c.1469-2A>T

SNV
Germline

Chr1:43349261

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339987289

rs_2153919390

1 SubmittersRCV002957836

NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)

SNV
Germline

Chr1:43340481

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339977942

rs_2153917236

1 SubmittersRCV003040348

NM_005373.3(MPL):c.873C>A (p.Cys291Ter)

SNV
Germline

Chr1:43340406

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339977198

rs_2545677417

1 SubmittersRCV003044735

NM_005373.3(MPL):c.1653+2T>C

SNV
Germline

Chr1:43352305

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339992902

rs_1257156248

1 SubmittersRCV003155868

NM_005373.3(MPL):c.205T>C (p.Tyr69His)

SNV
Germline

Chr1:43338224

Pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339973116

rs_1439788842

1 SubmittersRCV003154843

NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)

SNV
Germline

Chr1:43352239

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Conflicting Classifications

CA806967

rs_775704066

2 SubmittersRCV003154845 RCV004771539

NM_005373.3(MPL):c.761T>C (p.Leu254Pro)

SNV
Germline

Chr1:43340034

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339976699

rs_2545676752

1 SubmittersRCV003154846

NM_005373.3(MPL):c.1277G>C (p.Arg426Pro)

SNV
Germline

Chr1:43346903

Pathogenic

Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339983477

rs_200454070

1 SubmittersRCV003154847

NM_005373.3(MPL):c.407C>G (p.Pro136Arg)

SNV
Germline

Chr1:43339286

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA339974309

rs_764904424

3 SubmittersRCV003154848 RCV004763608 RCV005029924

NM_005373.3(MPL):c.1308+2T>G

SNV
Germline

Chr1:43346936

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339983899

rs_1570470323

1 SubmittersRCV003785614

NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)

SNV
Germline

Chr1:43348964

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339986869

rs_1647074009

1 SubmittersRCV003786065

NM_005373.3(MPL):c.690+2T>C

SNV
Germline

Chr1:43339571

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339974975

rs_2153916885

1 SubmittersRCV003793504

NM_005373.3(MPL):c.213-1G>A

SNV
Germline

Chr1:43338541

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA21607175

rs_867404262

1 SubmittersRCV003780945

NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)

SNV
Germline

Chr1:43346497

Pathogenic/Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA339981113

rs_2153918515

2 SubmittersRCV003786878 RCV005014962

NM_005373.3(MPL):c.79+1G>A

SNV
Germline

Chr1:43337928

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339972326

rs_1647004958

1 SubmittersRCV003807894

NM_005373.3(MPL):c.1468+1G>A

SNV
Germline

Chr1:43349003

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339987173

rs_2153919319

1 SubmittersRCV003791499

NM_005373.3(MPL):c.11G>A (p.Trp4Ter)

SNV
Germline

Chr1:43337859

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA806550

rs_755410233

1 SubmittersRCV003799488

NM_005373.3(MPL):c.89T>A (p.Leu30Ter)

SNV
Germline

Chr1:43338108

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339972491

rs_2545673631

1 SubmittersRCV003803808

NM_005373.3(MPL):c.582C>A (p.Cys194Ter)

SNV
Germline

Chr1:43339461

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA806706

rs_769674316

1 SubmittersRCV003796758

NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)

SNV
Germline

Chr1:43346857

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339982888

rs_2153918774

1 SubmittersRCV003796998

NM_005373.3(MPL):c.709G>T (p.Glu237Ter)

SNV
Germline

Chr1:43339982

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339976211

rs_765133601

1 SubmittersRCV003800457

NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)

SNV
Germline

Chr1:43346479

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA339980944

rs_2153918495

1 SubmittersRCV003801902

NM_005373.3(MPL):c.854-1G>A

SNV
Germline

Chr1:43340386

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA339977127

rs_2545677389

1 SubmittersRCV003813549

NM_005373.3(MPL):c.916C>T (p.Gln306Ter)

SNV
Germline

Chr1:43340449

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

CA21608238

rs_751677429

1 SubmittersRCV003809398

NM_005373.3(MPL):c.407C>T (p.Pro136Leu)

SNV
Germline

Chr1:43339286

Pathogenic/Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA339974311

rs_764904424

2 SubmittersRCV003815415 RCV005433471

NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)

SNV
Germline

Chr1:43349339

Likely pathogenic

Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004719537 RCV005017222

NM_005373.3(MPL):c.391G>C (p.Gly131Arg)

SNV
Germline

Chr1:43338720

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Single Submitter

1 SubmittersRCV004771730

NM_005373.3(MPL):c.690+1G>A

SNV
Germline

Chr1:43339570

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016002

NM_005373.3(MPL):c.733G>T (p.Gly245Ter)

SNV
Germline

Chr1:43340006

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028776

NM_005373.3(MPL):c.775G>T (p.Glu259Ter)

SNV
Germline

Chr1:43340048

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016012

NM_005373.3(MPL):c.981-1G>T

SNV
Germline

Chr1:43346444

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016031

NM_005373.3(MPL):c.1653+1G>C

SNV
Germline

Chr1:43352304

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016064

NM_005373.3(MPL):c.1654-1G>A

SNV
Germline

Chr1:43352517

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028816

NM_005373.3(MPL):c.1680T>A (p.Cys560Ter)

SNV
Germline

Chr1:43352544

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV005217453

NM_005373.3(MPL):c.1908A>G (p.Ter636Trp)

SNV
Germline

Chr1:43352772

Conflicting classifications of pathogenicity

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005228830 RCV005430974

NM_005373.3(MPL):c.853+1G>A

SNV
Germline

Chr1:43340127

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV005217208

NM_005373.3(MPL):c.691-2A>G

SNV
Germline

Chr1:43339962

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

No Assertion Criteria Provided

1 SubmittersRCV005605202

NM_005373.3(MPL):c.806G>A (p.Trp269Ter)

SNV
Germline

Chr1:43340079

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia

No Assertion Criteria Provided

1 SubmittersRCV005605205