Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)	SNV Germline	Chr1:23693872	Pathogenic	Diamond-Blackfan anemia 7 Diamond-Blackfan anemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253595	rs_121434389	5 SubmittersRCV000006107 RCV000695992 RCV001588800
NM_000975.5(RPL11):c.158-1G>A	SNV Germline	Chr1:23693806	Pathogenic	Diamond-Blackfan anemia 7 Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_151155897	2 SubmittersRCV000006110 RCV001216188
NM_001029.5(RPS26):c.1A>G (p.Met1Val)	SNV Germline	Chr12:56042167	Pathogenic	Diamond-Blackfan anemia 10 Diamond-Blackfan anemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253774	rs_143951267	6 SubmittersRCV000006496 RCV002415402 RCV003225019
NM_001029.5(RPS26):c.1A>T (p.Met1Leu)	SNV Germline	Chr12:56042167	Pathogenic	Diamond-Blackfan anemia 10 Condition: not provided	Criteria Provided Single Submitter	CA253776	rs_143951267	2 SubmittersRCV000006497 RCV001310994
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)	SNV Germline	Chr12:56042518	Pathogenic	Diamond-Blackfan anemia 10	No Assertion Criteria Provided	CA253778	rs_267607023	1 SubmittersRCV000006498
NM_001029.5(RPS26):c.3+1G>A	SNV Germline	Chr12:56042170	Pathogenic	Diamond-Blackfan anemia 10	No Assertion Criteria Provided	CA253780	rs_148622862	1 SubmittersRCV000006500
NM_001011.4(RPS7):c.147+1G>A	SNV Germline	Chr2:3575889	Pathogenic	Diamond-Blackfan anemia 8	No Assertion Criteria Provided	CA340528	rs_397507554	2 SubmittersRCV000006525
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)	SNV Germline	Chr1:92833452	Pathogenic	Diamond-Blackfan anemia 6 Condition: not provided Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA253786	rs_121434405	4 SubmittersRCV000006556 RCV000627210 RCV001217229
NM_000969.5(RPL5):c.73+2T>G	SNV Germline	Chr1:92833460	Pathogenic	Diamond-Blackfan anemia 6	No Assertion Criteria Provided		rs_142156224	1 SubmittersRCV000006561
NM_001014.5(RPS10):c.3G>A (p.Met1Ile)	SNV Germline	Chr6:34425219	Pathogenic	Diamond-Blackfan anemia 9	No Assertion Criteria Provided	CA253789	rs_267607021	1 SubmittersRCV000006562
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)	SNV Germline	Chr6:34421793	Pathogenic	Diamond-Blackfan anemia 9 Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA253791	rs_267607022	3 SubmittersRCV000006564 RCV001851701
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)	SNV Germline	Chr19:41869138	Pathogenic	Diamond-Blackfan anemia 1 Condition: not provided Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA130761	rs_61762293	5 SubmittersRCV000033182 RCV000272977 RCV002433445
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)	SNV Germline	Chr19:41869042	Pathogenic	Diamond-Blackfan anemia 1 Condition: not provided Diamond-Blackfan anemia RPS19-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130763	rs_104894711	6 SubmittersRCV000033183 RCV000497714 RCV001065746 RCV003415668
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)	SNV Germline	Chr19:41861138	Pathogenic	Diamond-Blackfan anemia 1 Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA130764	rs_104894716	3 SubmittersRCV000033184 RCV001237459
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)	SNV Germline	Chr19:41869108	Pathogenic	Diamond-Blackfan anemia 1	No Assertion Criteria Provided	CA130766	rs_121908649	1 SubmittersRCV000033185
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)	SNV Germline	Chr19:41869722	Likely pathogenic	Diamond-Blackfan anemia 1 Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA130769	rs_786200936	2 SubmittersRCV000033189 RCV002512845
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter)	SNV Germline	Chr10:78037230	Pathogenic	Diamond-Blackfan anemia 3	No Assertion Criteria Provided	CA340655	rs_104894188	1 SubmittersRCV000007667
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)	SNV Germline	Chr10:78035394	Pathogenic	Diamond-Blackfan anemia 3 Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA340658	rs_104894189	2 SubmittersRCV000007668 RCV000638824
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)	SNV Germline	ChrX:48792371	Pathogenic	Beta-thalassemia-X-linked thrombocytopenia syndrome Condition: not provided Thrombocytopenia, X-linked, with or without dyserythropoietic anemia X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Criteria Provided Multiple Submitters No Conflicts	CA340965	rs_104894809	9 SubmittersRCV000011173 RCV001701722 RCV001542263 RCV003137511 RCV001382887
NM_001021.6(RPS17):c.2T>G (p.Met1Arg)	SNV Germline	Chr15:82540427	Pathogenic	Diamond-Blackfan anemia 4 Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA341244	rs_116840811	2 SubmittersRCV000013873 RCV002433453
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)	SNV Germline	Chr3:197951244	Pathogenic	Diamond-Blackfan anemia 5	No Assertion Criteria Provided	CA341247	rs_116840808	1 SubmittersRCV000013875
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter)	SNV Germline	Chr3:197954142	Pathogenic	Diamond-Blackfan anemia 5	No Assertion Criteria Provided	CA341250	rs_116840809	1 SubmittersRCV000013877
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter)	SNV Germline	Chr15:82538982	Pathogenic	Diamond-Blackfan anemia 4	No Assertion Criteria Provided	CA267568	rs_6991	1 SubmittersRCV000087020
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter)	SNV Germline	Chr1:92834833	Pathogenic	Diamond-Blackfan anemia 6 Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA267570	rs_587777117	2 SubmittersRCV000087038 RCV002444558
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)	SNV Germline	Chr1:92837592	Pathogenic	Diamond-Blackfan anemia 6	Criteria Provided Single Submitter	CA267572	rs_587777118	2 SubmittersRCV000087039
NM_001032.5(RPS29):c.91A>T (p.Ile31Phe)	SNV Germline	Chr14:49586021	Pathogenic	Diamond-Blackfan anemia 13	No Assertion Criteria Provided	CA163477	rs_587777568	1 SubmittersRCV000128850
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)	SNV Germline	Chr14:49585963	Likely pathogenic	Diamond-Blackfan anemia 13	Criteria Provided Single Submitter	CA163479	rs_587777569	2 SubmittersRCV000128851
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)	SNV Germline	ChrX:48791111	Pathogenic	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Criteria Provided Single Submitter	CA345934	rs_587776451	3 SubmittersRCV000144252 RCV000754842 RCV001382885
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)	SNV Germline	ChrX:48791329	Pathogenic	X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Thrombocytopenia, X-linked, with or without dyserythropoietic anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA345938	rs_587776452	3 SubmittersRCV000011175 RCV000144253 RCV001857491
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)	SNV Germline	ChrX:54443418	Pathogenic	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Criteria Provided Single Submitter	CA198541	rs_786203996	2 SubmittersRCV000167572 RCV000191915
NM_001031.5(RPS28):c.1A>G (p.Met1Val)	SNV Germline	Chr19:8321531	Pathogenic	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Criteria Provided Multiple Submitters No Conflicts	CA198543	rs_786203997	3 SubmittersRCV000167573
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)	SNV Germline	Chr12:56043440	Pathogenic	Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA205000	rs_148942765	4 SubmittersRCV000167574 RCV000191914 RCV002433720
NM_001029.5(RPS26):c.4-2A>T	SNV Germline	Chr12:56042423	Pathogenic	Diamond-Blackfan anemia 10 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Criteria Provided Single Submitter	CA204999	rs_786203998	2 SubmittersRCV000167575 RCV000191913
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)	SNV Germline	Chr12:56042476	Pathogenic	Diamond-Blackfan anemia 10	Criteria Provided Multiple Submitters No Conflicts	CA277448	rs_797045919	2 SubmittersRCV000195166
NM_000975.5(RPL11):c.258T>G (p.Gly86=)	SNV Germline	Chr1:23693907	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia Diamond-Blackfan anemia 7	Criteria Provided Conflicting Classifications	CA684223	rs_760885169	2 SubmittersRCV001442071 RCV003129814
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro)	SNV Germline	Chr1:92836191	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA10581818	rs_878854146	1 SubmittersRCV000229721
NM_033022.4(RPS24):c.1A>G (p.Met1Val)	SNV Germline	Chr10:78033902	Pathogenic	Condition: not provided Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA10588481	rs_886039545	3 SubmittersRCV000255670 RCV000551919
NM_000975.5(RPL11):c.306T>C (p.Thr102=)	SNV Germline	Chr1:23694701	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 7 Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications	CA10610595	rs_886046309	2 SubmittersRCV000284208 RCV001452040
NM_000975.5(RPL11):c.158-7C>T	SNV Germline	Chr1:23693800	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 7 Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications	CA684202	rs_768654673	2 SubmittersRCV000347577 RCV003507273
NM_000969.5(RPL5):c.325-11T>G	SNV Germline	Chr1:92836179	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 6 Condition: not provided not specified Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications	CA952446	rs_145058455	6 SubmittersRCV000361575 RCV001582922 RCV001820862 RCV002059503
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)	SNV Germline	Chr1:92836268	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 6 Diamond-Blackfan anemia not specified	Criteria Provided Conflicting Classifications	CA952458	rs_200075817	4 SubmittersRCV000406449 RCV002059504 RCV003151016
NM_001011.4(RPS7):c.39C>T (p.Gly13=)	SNV Germline	Chr2:3575648	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia Diamond-Blackfan anemia 8	Criteria Provided Conflicting Classifications	CA1516521	rs_746686516	2 SubmittersRCV000353551 RCV001035733
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)	SNV Germline	Chr19:41860842	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia Diamond-Blackfan anemia 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9465269	rs_143477104	5 SubmittersRCV000358661 RCV001094592 RCV001564337 RCV001820988
NM_001029.5(RPS26):c.93C>T (p.Pro31=)	SNV Germline	Chr12:56042514	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 10 not specified Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications	CA6621704	rs_760255764	3 SubmittersRCV000312072 RCV000502146 RCV002374530
NM_001011.4(RPS7):c.76-1G>T	SNV Germline	Chr2:3575816	Pathogenic	Diamond-Blackfan anemia 8	No Assertion Criteria Provided	CA16609340	rs_1057519624	1 SubmittersRCV000412538
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)	SNV Germline	Chr19:41869748	Pathogenic	Condition: not provided Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA16043115	rs_144337183	3 SubmittersRCV000414046 RCV002323577
NM_001022.4(RPS19):c.3G>T (p.Met1Ile)	SNV Germline	Chr19:41860777	Pathogenic	Condition: not provided Diamond-Blackfan anemia Diamond-Blackfan anemia 1	Criteria Provided Multiple Submitters No Conflicts	CA16043205	rs_138938035	4 SubmittersRCV000413436 RCV002374616 RCV003168598
NM_002049.4(GATA1):c.622G>A (p.Gly208Arg)	SNV Germline	ChrX:48792346	Conflicting classifications of pathogenicity	Condition: not provided GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications	CA16043250	rs_587776454	2 SubmittersRCV000414345 RCV003766149
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)	SNV Germline	Chr1:92833603	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA16610155	rs_1060503527	1 SubmittersRCV000466439
NM_000969.5(RPL5):c.228C>T (p.Cys76=)	SNV Germline	Chr1:92834817	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia Diamond-Blackfan anemia 6	Criteria Provided Conflicting Classifications	CA952411	rs_370284124	3 SubmittersRCV000474544 RCV001099576
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)	SNV Germline	Chr19:41869724	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA16616275	rs_1060503688	1 SubmittersRCV000462953
NM_000988.5(RPL27):c.-2-1G>A	SNV Germline	Chr17:42998748	Pathogenic	Diamond-Blackfan anemia 16	No Assertion Criteria Provided	CA645293903	rs_1085307119	1 SubmittersRCV000477703
NM_001021.6(RPS17):c.159T>C (p.Tyr53=)	SNV Germline	Chr15:82538982	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications	CA273932819	rs_6991	2 SubmittersRCV000478127 RCV002402391
NM_033022.4(RPS24):c.189T>C (p.His63=)	SNV Germline	Chr10:78035630	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia RPS24-related disorder	Criteria Provided Conflicting Classifications	CA5571960	rs_201805132	4 SubmittersRCV000503744 RCV000638829 RCV003902793
NM_001022.4(RPS19):c.1-7C>T	SNV Germline	Chr19:41860768	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia 1	Criteria Provided Conflicting Classifications	CA9465249	rs_782801643	2 SubmittersRCV000501777 RCV001133649
NM_001022.4(RPS19):c.356+3A>C	SNV Germline	Chr19:41869217	Likely pathogenic	Diamond-Blackfan anemia 1	No Assertion Criteria Provided	CA645372649	rs_1555841379	1 SubmittersRCV000503534
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)	SNV Germline	Chr1:92836291	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia Diamond-Blackfan anemia 6	Criteria Provided Conflicting Classifications	CA952466	rs_11540836	3 SubmittersRCV000536846 RCV002476139
NM_001014.5(RPS10):c.261G>A (p.Pro87=)	SNV Germline	Chr6:34424730	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia not specified Diamond-Blackfan anemia 9	Criteria Provided Conflicting Classifications	CA3765094	rs_781484971	4 SubmittersRCV000528370 RCV001821536 RCV002483409
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)	SNV Germline	Chr19:41869043	Pathogenic	Diamond-Blackfan anemia Condition: not provided RPS19-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA406029872	rs_1555841301	5 SubmittersRCV000538681 RCV001702674 RCV003900162
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)	SNV Germline/somatic	ChrX:48791198	Pathogenic	Acute megakaryoblastic leukemia in down syndrome GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA412866876	rs_1557020021	2 SubmittersRCV001293757 RCV002232272
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)	SNV Germline	ChrX:48791203	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Complete trisomy 21 syndrome Thrombocytopenia, X-linked, with or without dyserythropoietic anemia Beta-thalassemia-X-linked thrombocytopenia syndrome X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Condition: not provided	Criteria Provided Conflicting Classifications	CA10404535	rs_782698349	3 SubmittersRCV000533431 RCV000766096 RCV003133317
NM_000799.4(EPO):c.530G>A (p.Arg177Gln)	SNV Germline	Chr7:100723081	Pathogenic	Diamond-Blackfan anemia-like	No Assertion Criteria Provided	CA368560830	rs_1358275550	1 SubmittersRCV000590853
NM_001022.4(RPS19):c.72-15C>G	SNV Germline	Chr19:41861097	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia Diamond-Blackfan anemia 1	Criteria Provided Conflicting Classifications	CA658799235	rs_530537278	3 SubmittersRCV000608442 RCV001868044 RCV003147520
NM_000975.5(RPL11):c.264+1G>A	SNV Germline	Chr1:23693914	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter	CA338993022	rs_1553121795	1 SubmittersRCV000638825
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)	SNV Germline	Chr3:197954050	Pathogenic	Diamond-Blackfan anemia 5	Criteria Provided Single Submitter	CA355884581	rs_1553811551	1 SubmittersRCV000646032
NM_033022.4(RPS24):c.148A>C (p.Thr50Pro)	SNV Germline	Chr10:78035589	Pathogenic	Diamond-Blackfan anemia 3	Criteria Provided Single Submitter		rs_1554841994	1 SubmittersRCV000664315
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)	SNV Germline	Chr1:92833455	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1558283853	1 SubmittersRCV000694413
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)	SNV Germline	Chr1:92833658	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1558284062	1 SubmittersRCV000691705
NM_002049.4(GATA1):c.220+1G>C	SNV Germline	ChrX:48791330	Likely pathogenic	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1569499366	1 SubmittersRCV002232859
NM_001019.5(RPS15A):c.213G>A (p.Lys71=)	SNV Germline	Chr16:18788063	Pathogenic	Diamond-Blackfan anemia 20	No Assertion Criteria Provided		rs_1567287990	1 SubmittersRCV000754827
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)	SNV Germline	Chr19:48617362	Pathogenic	Diamond-Blackfan anemia 18	No Assertion Criteria Provided		rs_1568425218	1 SubmittersRCV000754828
NM_007209.4(RPL35):c.231G>C (p.Lys77Asn)	SNV Germline	Chr9:124858059	Pathogenic	Diamond-Blackfan anemia 19	No Assertion Criteria Provided		rs_1564307664	1 SubmittersRCV000754834
NM_002948.5(RPL15):c.172+5G>A	SNV Germline	Chr3:23918036	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 12 Condition: not provided	Criteria Provided Conflicting Classifications		rs_369956511	2 SubmittersRCV000768300 RCV001501852
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)	SNV Germline	Chr1:92837629	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 6 Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications		rs_576330538	2 SubmittersRCV000791214 RCV002536927
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)	SNV Germline	Chr1:92833433	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_148673599	1 SubmittersRCV000822654
NM_000975.5(RPL11):c.508-2A>G	SNV Germline	Chr1:23696342	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1570569383	1 SubmittersRCV000792669
NM_001022.4(RPS19):c.72-1G>A	SNV Germline	Chr19:41861111	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_146366047	1 SubmittersRCV000801996
NM_001022.4(RPS19):c.173-2A>G	SNV Germline	Chr19:41869029	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_111833764	1 SubmittersRCV000798302
NM_001011.4(RPS7):c.508-3T>G	SNV Germline	Chr2:3580802	Likely pathogenic	Diamond-Blackfan anemia 8	No Assertion Criteria Provided		rs_1572360944	1 SubmittersRCV000853497
NM_002049.4(GATA1):c.93G>T (p.Gly31=)	SNV Germline	ChrX:48791202	Conflicting classifications of pathogenicity	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia not specified	Criteria Provided Conflicting Classifications		rs_368193049	2 SubmittersRCV000864137 RCV001816961
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys)	SNV Germline	ChrX:48792194	Conflicting classifications of pathogenicity	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia not specified	Criteria Provided Conflicting Classifications		rs_140561920	2 SubmittersRCV000862181 RCV001816944
NM_000975.5(RPL11):c.396+9A>G	SNV Germline	Chr1:23694800	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia Diamond-Blackfan anemia 7	Criteria Provided Conflicting Classifications		rs_201786327	4 SubmittersRCV000861227 RCV001100324
NM_033022.4(RPS24):c.3+7C>T	SNV Germline	Chr10:78033911	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 3 Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications		rs_759947869	2 SubmittersRCV001105092 RCV002064457
NM_001022.4(RPS19):c.214G>T (p.Val72Phe)	SNV Germline	Chr19:41869072	Conflicting classifications of pathogenicity	Landsteiner-Wiener phenotype Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications		rs_1600621248	2 SubmittersRCV000990220 RCV001858721
NM_001022.4(RPS19):c.3G>A (p.Met1Ile)	SNV Germline	Chr19:41860777	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts		rs_138938035	2 SubmittersRCV001066690
NM_001014.5(RPS10):c.401-2A>G	SNV Germline	Chr6:34418426	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1765648528	1 SubmittersRCV001035752
NM_000996.4(RPL35A):c.164+1G>A	SNV Germline	Chr3:197951312	Likely pathogenic	Diamond-Blackfan anemia 5	Criteria Provided Single Submitter		rs_113752862	1 SubmittersRCV001045886
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu)	SNV Germline	Chr3:23919200	Likely pathogenic	Diamond-Blackfan anemia 12	Criteria Provided Single Submitter		rs_1704930969	1 SubmittersRCV001089984
NM_000975.5(RPL11):c.264+9A>T	SNV Germline	Chr1:23693922	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 7 Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications		rs_777041270	2 SubmittersRCV001098558 RCV002554927
NM_000969.5(RPL5):c.3+11G>C	SNV Germline	Chr1:92832128	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 6 Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications		rs_376414614	2 SubmittersRCV001097785 RCV003769052
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)	SNV Germline	ChrX:48791144	Pathogenic/Likely pathogenic	Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Complete trisomy 21 syndrome Thrombocytopenia, X-linked, with or without dyserythropoietic anemia X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Beta-thalassemia-X-linked thrombocytopenia syndrome GATA1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2062673416	3 SubmittersRCV001224493 RCV002504289 RCV003398968
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)	SNV Germline	ChrX:48791158	Pathogenic	Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Criteria Provided Single Submitter		rs_2062673523	1 SubmittersRCV001216172
NM_001029.5(RPS26):c.2T>G (p.Met1Arg)	SNV Germline	Chr12:56042168	Pathogenic	Diamond-Blackfan anemia 10	Criteria Provided Single Submitter		rs_1895894261	1 SubmittersRCV001202198
NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)	SNV Germline	Chr12:56043377	Pathogenic	Diamond-Blackfan anemia 10	Criteria Provided Single Submitter		rs_1895918140	1 SubmittersRCV001202461
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)	SNV Germline	Chr19:41861139	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2074026880	1 SubmittersRCV001210127
NM_002049.4(GATA1):c.220+1G>A	SNV Germline	ChrX:48791330	Likely pathogenic	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1569499366	1 SubmittersRCV001229278
NM_001011.4(RPS7):c.-19+1G>A	SNV Germline	Chr2:3575351	Likely pathogenic	Diamond-Blackfan anemia 8	Criteria Provided Single Submitter		rs_1064796859	2 SubmittersRCV001252962
NM_001022.4(RPS19):c.393G>A (p.Leu131=)	SNV Germline	Chr19:41869735	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 1 Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications		rs_1447794153	2 SubmittersRCV001255174 RCV001435349
NM_001023.4(RPS20):c.251T>G (p.Ile84Ser)	SNV Germline	Chr8:56073199	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1809815205	1 SubmittersRCV001267810
NM_001023.4(RPS20):c.251T>A (p.Ile84Asn)	SNV Germline	Chr8:56073199	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1809815205	1 SubmittersRCV001267811
NM_000969.5(RPL5):c.189+2T>G	SNV Unknown	Chr1:92833662	Likely pathogenic	Diamond-Blackfan anemia 6	No Assertion Criteria Provided		rs_1687004626	1 SubmittersRCV001267892
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr)	SNV Germline	Chr3:197951236	Likely pathogenic	Diamond-Blackfan anemia 5	Criteria Provided Single Submitter		rs_1720051488	1 SubmittersRCV001305334
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)	SNV Germline	Chr19:41860827	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2074021310	1 SubmittersRCV001303198
NM_000996.4(RPL35A):c.12-5C>G	SNV Germline	Chr3:197951154	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 5 Diamond-Blackfan anemia RPL35A-related disorder	Criteria Provided Conflicting Classifications		rs_541454864	3 SubmittersRCV001314763 RCV002412007 RCV003953655
NM_001011.4(RPS7):c.75+1G>A	SNV Germline	Chr2:3575685	Pathogenic	Diamond-Blackfan anemia 8	Criteria Provided Single Submitter		rs_1661257691	1 SubmittersRCV001333634
NM_000969.5(RPL5):c.4-10T>A	SNV Germline	Chr1:92833379	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1686989669	1 SubmittersRCV001377843
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)	SNV Germline	Chr1:23692723	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2124429140	1 SubmittersRCV001381985
NM_000969.5(RPL5):c.1A>C (p.Met1Leu)	SNV Germline	Chr1:92832115	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2100672432	1 SubmittersRCV001380814
NM_001014.5(RPS10):c.1A>G (p.Met1Val)	SNV Germline	Chr6:34425221	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2113806114	1 SubmittersRCV001381292
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)	SNV Germline	Chr19:41869043	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_1555841301	1 SubmittersRCV001383782
NM_002049.4(GATA1):c.3G>T (p.Met1Ile)	SNV Germline	ChrX:48791112	Pathogenic	Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Criteria Provided Single Submitter		rs_2147305526	1 SubmittersRCV001380283
NM_001022.4(RPS19):c.192G>C (p.Leu64=)	SNV Germline	Chr19:41869050	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia not specified	Criteria Provided Conflicting Classifications		rs_144069838	2 SubmittersRCV001506179 RCV001821800
NM_002049.4(GATA1):c.173C>T (p.Ala58Val)	SNV Germline	ChrX:48791282	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Condition: not provided	Criteria Provided Conflicting Classifications		rs_782299679	2 SubmittersRCV001517163 RCV003132511
NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro)	SNV Germline	ChrX:48794079	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis GATA1-related disorder	Criteria Provided Conflicting Classifications		rs_782120820	2 SubmittersRCV001512605 RCV003416377
NM_000975.5(RPL11):c.397-2A>G	SNV Germline	Chr1:23695796	Likely pathogenic	Condition: not provided Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts		rs_2124432051	2 SubmittersRCV001554969 RCV002359168
NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)	SNV Germline	Chr16:50070178	Pathogenic	Diamond-Blackfan anemia 1 Diamond-Blackfan anemia 21	No Assertion Criteria Provided		rs_1184398890	2 SubmittersRCV002221164 RCV002291225
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu)	SNV Germline	Chr16:50102266	Pathogenic/Likely pathogenic	Diamond-Blackfan anemia Diamond-Blackfan anemia 21	No Assertion Criteria Provided		rs_917466219	2 SubmittersRCV001774816 RCV002291226
NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr)	SNV Germline	Chr16:50084615	Pathogenic	Diamond-Blackfan anemia Diamond-Blackfan anemia 21	No Assertion Criteria Provided		rs_2150610519	2 SubmittersRCV002225143 RCV002291227
NM_001029.5(RPS26):c.3+2T>G	SNV Germline	Chr12:56042171	Likely pathogenic	Diamond-Blackfan anemia 10	Criteria Provided Multiple Submitters No Conflicts		rs_2136753495	2 SubmittersRCV001783693
NM_182922.4(HEATR3):c.399+1G>T	SNV Germline	Chr16:50068868	Pathogenic	Diamond-Blackfan anemia 1 Diamond-Blackfan anemia 21	Criteria Provided Single Submitter		rs_2150594383	2 SubmittersRCV001809317 RCV002291228
NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)	SNV Germline	Chr16:50075667	Pathogenic	Diamond-Blackfan anemia 1 Diamond-Blackfan anemia 21	Criteria Provided Single Submitter		rs_2150600578	2 SubmittersRCV001809318 RCV002291229
NM_000969.5(RPL5):c.*1A>G	SNV Germline	Chr1:92841866	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications		rs_11540833	2 SubmittersRCV001822272 RCV002334708
NM_001011.4(RPS7):c.525T>G (p.Gly175=)	SNV Germline	Chr2:3580822	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia 8	Criteria Provided Conflicting Classifications		rs_1392470365	2 SubmittersRCV001817611 RCV002074294
NM_002049.4(GATA1):c.871-7T>C	SNV Germline	ChrX:48793786	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Condition: not provided	Criteria Provided Conflicting Classifications		rs_371752832	3 SubmittersRCV001819283 RCV002077292 RCV002261388
NM_001029.5(RPS26):c.42C>T (p.Gly14=)	SNV Germline	Chr12:56042463	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia 10	Criteria Provided Conflicting Classifications		rs_771196681	2 SubmittersRCV001820485 RCV003507399
NM_001011.4(RPS7):c.148-6C>T	SNV Germline	Chr2:3576481	Conflicting classifications of pathogenicity	not specified Diamond-Blackfan anemia 8	Criteria Provided Conflicting Classifications		rs_533287773	2 SubmittersRCV001820644 RCV002074342
NM_000975.5(RPL11):c.265-2A>G	SNV Germline	Chr1:23694658	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2124430919	1 SubmittersRCV001989229
NM_001022.4(RPS19):c.71+1G>C	SNV Germline	Chr19:41860846	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2123256342	1 SubmittersRCV002031373
NM_000969.5(RPL5):c.527+1G>T	SNV Germline	Chr1:92836393	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2100685111	1 SubmittersRCV001971307
NM_001022.4(RPS19):c.173-1G>T	SNV Germline	Chr19:41869030	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2123283622	1 SubmittersRCV001876903
NM_000969.5(RPL5):c.74-2A>G	SNV Germline	Chr1:92833543	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_2100676852	1 SubmittersRCV002045961
NM_001022.4(RPS19):c.356+1G>A	SNV Germline	Chr19:41869215	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter		rs_879993801	1 SubmittersRCV002010419
NM_001011.4(RPS7):c.66C>T (p.Gly22=)	SNV Germline	Chr2:3575675	Conflicting classifications of pathogenicity	Condition: not provided Diamond-Blackfan anemia Diamond-Blackfan anemia 8	Criteria Provided Conflicting Classifications		rs_773617808	3 SubmittersRCV002224134 RCV003170435 RCV001986132
NM_001029.5(RPS26):c.4-4G>T	SNV Germline	Chr12:56042421	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 10 Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications		rs_2136753773	2 SubmittersRCV002191214 RCV002331834
NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp)	SNV Germline	ChrX:48793989	Conflicting classifications of pathogenicity	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_202091014	2 SubmittersRCV002190089 RCV002560775
NM_000969.5(RPL5):c.189+1G>C	SNV Germline	Chr1:92833661	Likely pathogenic	Diamond-Blackfan anemia 6	Criteria Provided Single Submitter			1 SubmittersRCV002283677
NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)	SNV Germline	Chr1:23692726	Pathogenic	Diamond-Blackfan anemia 7	Criteria Provided Single Submitter			1 SubmittersRCV002283845
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)	SNV Germline	Chr3:197951272	Conflicting classifications of pathogenicity	Condition: not provided Diamond-Blackfan anemia Diamond-Blackfan anemia 5	Criteria Provided Conflicting Classifications			4 SubmittersRCV002308738 RCV002427776 RCV003514552
NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)	SNV Germline	Chr19:41860808	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002459131
NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)	SNV Germline	Chr1:92836250	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002355543
NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)	SNV Germline	Chr1:23694723	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002326146
NM_000969.5(RPL5):c.3G>A (p.Met1Ile)	SNV Germline	Chr1:92832117	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002375646
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)	SNV Germline	Chr19:41860777	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002375652
NM_001029.5(RPS26):c.312+1G>C	SNV Germline	Chr12:56043494	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002320488
NM_001029.5(RPS26):c.313-2A>G	SNV Germline	Chr12:56044117	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002320613
NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)	SNV Germline	Chr1:92836277	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002333052
NM_000975.5(RPL11):c.6+2T>C	SNV Germline	Chr1:23691831	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002358008
NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)	SNV Germline	Chr1:92833433	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002340604
NM_000975.5(RPL11):c.508-1G>A	SNV Germline	Chr1:23696343	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002335895
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)	SNV Germline	Chr19:41861119	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002419137
NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)	SNV Germline	Chr1:92840587	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002385015
NM_000975.5(RPL11):c.158-1G>C	SNV Germline	Chr1:23693806	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002405819
NM_000975.5(RPL11):c.158-2A>C	SNV Germline	Chr1:23693805	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002405831
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)	SNV Germline	Chr19:41861180	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002389464
NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)	SNV Germline	Chr19:41861202	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002401241
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)	SNV Germline	Chr19:41861207	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002406005
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)	SNV Germline	Chr19:41861207	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002406012
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)	SNV Germline	Chr19:41869034	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002407657
NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)	SNV Germline	Chr19:41869049	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002410682
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)	SNV Germline	Chr12:56043402	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002428064
NM_001021.6(RPS17):c.1A>G (p.Met1Val)	SNV Germline	Chr15:82540428	Pathogenic	Diamond-Blackfan anemia Condition: not provided	Criteria Provided Single Submitter			2 SubmittersRCV002417107 RCV003151406
NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)	SNV Germline	Chr1:92833407	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002428467
NM_033022.4(RPS24):c.279+5G>T	SNV Germline	Chr10:78035725	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002441408
NM_033022.4(RPS24):c.2T>C (p.Met1Thr)	SNV Germline	Chr10:78033903	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002435644
NM_001029.5(RPS26):c.2T>C (p.Met1Thr)	SNV Germline	Chr12:56042168	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002435649
NM_001029.5(RPS26):c.3+1G>T	SNV Germline	Chr12:56042170	Pathogenic/Likely pathogenic	Diamond-Blackfan anemia Diamond-Blackfan anemia 10	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002435658 RCV003225993
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)	SNV Germline	Chr19:41869159	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia	Criteria Provided Conflicting Classifications			2 SubmittersRCV002435862
NM_000969.5(RPL5):c.3+1G>A	SNV Germline	Chr1:92832118	Pathogenic/Likely pathogenic	Diamond-Blackfan anemia 6	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002466790
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)	SNV Germline	Chr19:41861134	Pathogenic	Diamond-Blackfan anemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003064586 RCV003126268
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)	SNV Germline	Chr19:41861206	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV003064587
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)	SNV Germline	Chr1:92832116	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV002648164
NM_002049.4(GATA1):c.962T>C (p.Leu321Pro)	SNV Germline	ChrX:48793884	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002650545 RCV003134472
NM_000969.5(RPL5):c.72A>G (p.Arg24=)	SNV Germline	Chr1:92833457	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia Diamond-Blackfan anemia 6	Criteria Provided Conflicting Classifications			2 SubmittersRCV002862206 RCV003134511
NM_002049.4(GATA1):c.338G>A (p.Arg113His)	SNV Germline	ChrX:48791961	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002885313 RCV003326641
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)	SNV Germline	Chr2:3575820	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 8	Criteria Provided Conflicting Classifications			2 SubmittersRCV002894936
NM_001021.6(RPS17):c.156-1G>A	SNV Germline	Chr15:82538986	Likely pathogenic	Diamond-Blackfan anemia 4	Criteria Provided Single Submitter			1 SubmittersRCV003111527
NM_001029.5(RPS26):c.181+1G>A	SNV Germline	Chr12:56042603	Likely pathogenic	Diamond-Blackfan anemia 10	Criteria Provided Single Submitter			1 SubmittersRCV003133807
NM_000969.5(RPL5):c.715A>G (p.Met239Val)	SNV Germline	Chr1:92840560	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 6	Criteria Provided Conflicting Classifications			2 SubmittersRCV003135801
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)	SNV Germline	Chr12:56044150	Conflicting classifications of pathogenicity	Diamond-Blackfan anemia 10 Condition: not provided	Criteria Provided Conflicting Classifications			4 SubmittersRCV003135804 RCV003328723
NM_002049.4(GATA1):c.507C>T (p.Ser169=)	SNV Germline	ChrX:48792130	Conflicting classifications of pathogenicity	Condition: not provided Diamond-Blackfan anemia GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	Criteria Provided Conflicting Classifications			2 SubmittersRCV003130987 RCV003778700
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)	SNV Germline	Chr3:23917944	Pathogenic	Diamond-Blackfan anemia 12	No Assertion Criteria Provided			1 SubmittersRCV003228755
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)	SNV Germline	Chr3:23917888	Pathogenic	Diamond-Blackfan anemia 12	No Assertion Criteria Provided			1 SubmittersRCV003228756
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)	SNV Germline	Chr3:23919344	Pathogenic	Diamond-Blackfan anemia 12	No Assertion Criteria Provided			1 SubmittersRCV003228757
NM_000987.5(RPL26):c.-5-2A>G	SNV Germline	Chr17:8382317	Likely pathogenic	Diamond-Blackfan anemia 11	Criteria Provided Single Submitter			1 SubmittersRCV004527283
NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)	SNV Germline	ChrX:48791305	Conflicting classifications of pathogenicity	GATA1-related disorder GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV003392805 RCV003778286 RCV004362864
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)	SNV Germline	Chr19:41869718	Pathogenic	Diamond-Blackfan anemia 1	Criteria Provided Single Submitter			1 SubmittersRCV003486298
NM_001029.5(RPS26):c.2T>A (p.Met1Lys)	SNV Germline	Chr12:56042168	Likely pathogenic	Diamond-Blackfan anemia 10	Criteria Provided Single Submitter			1 SubmittersRCV003486337
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)	SNV Germline	Chr10:78037206	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV003507638
NM_001011.4(RPS7):c.-19+1G>T	SNV Germline	Chr2:3575351	Pathogenic	Diamond-Blackfan anemia 8	Criteria Provided Single Submitter			1 SubmittersRCV003507623
NM_001022.4(RPS19):c.357-2A>G	SNV Germline	Chr19:41869697	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV003508878
NM_001011.4(RPS7):c.-19+2T>A	SNV Germline	Chr2:3575352	Pathogenic	Diamond-Blackfan anemia 8	Criteria Provided Single Submitter			1 SubmittersRCV003507711
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)	SNV Germline	Chr19:41860775	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV003615999
NM_001022.4(RPS19):c.412-2A>G	SNV Germline	Chr19:41871349	Pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV003616000
NM_001011.4(RPS7):c.75+1G>T	SNV Germline	Chr2:3575685	Likely pathogenic	Diamond-Blackfan anemia 8	Criteria Provided Single Submitter			1 SubmittersRCV003615991
NM_000969.5(RPL5):c.4-1G>A	SNV Germline	Chr1:92833388	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV003615722
NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)	SNV Germline	ChrX:48791295	Pathogenic	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV003795206
NM_002049.4(GATA1):c.220+1G>T	SNV Germline	ChrX:48791330	Pathogenic	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV003817980
NM_001022.4(RPS19):c.169G>C (p.Ala57Pro)	SNV Germline	Chr19:41861209	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV004521045
NM_001022.4(RPS19):c.353A>G (p.Asp118Gly)	SNV Germline	Chr19:41869211	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV004556141
NM_001022.4(RPS19):c.362G>T (p.Arg121Leu)	SNV Germline	Chr19:41869704	Likely pathogenic	Diamond-Blackfan anemia	Criteria Provided Single Submitter			1 SubmittersRCV004556142

NM_000975.5(RPL11):c.223C>T (p.Arg75Ter)

SNV
Germline

Chr1:23693872

Pathogenic

Diamond-Blackfan anemia 7
Diamond-Blackfan anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253595

rs_121434389

5 SubmittersRCV000006107 RCV000695992 RCV001588800

NM_000975.5(RPL11):c.158-1G>A

SNV
Germline

Chr1:23693806

Pathogenic

Diamond-Blackfan anemia 7
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_151155897

2 SubmittersRCV000006110 RCV001216188

NM_001029.5(RPS26):c.1A>G (p.Met1Val)

SNV
Germline

Chr12:56042167

Pathogenic

Diamond-Blackfan anemia 10
Diamond-Blackfan anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253774

rs_143951267

6 SubmittersRCV000006496 RCV002415402 RCV003225019

NM_001029.5(RPS26):c.1A>T (p.Met1Leu)

SNV
Germline

Chr12:56042167

Pathogenic

Diamond-Blackfan anemia 10
Condition: not provided

Criteria Provided
Single Submitter

CA253776

rs_143951267

2 SubmittersRCV000006497 RCV001310994

NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)

SNV
Germline

Chr12:56042518

Pathogenic

Diamond-Blackfan anemia 10

No Assertion Criteria Provided

CA253778

rs_267607023

1 SubmittersRCV000006498

NM_001029.5(RPS26):c.3+1G>A

SNV
Germline

Chr12:56042170

Pathogenic

Diamond-Blackfan anemia 10

No Assertion Criteria Provided

CA253780

rs_148622862

1 SubmittersRCV000006500

NM_001011.4(RPS7):c.147+1G>A

SNV
Germline

Chr2:3575889

Pathogenic

Diamond-Blackfan anemia 8

No Assertion Criteria Provided

CA340528

rs_397507554

2 SubmittersRCV000006525

NM_000969.5(RPL5):c.67C>T (p.Arg23Ter)

SNV
Germline

Chr1:92833452

Pathogenic

Diamond-Blackfan anemia 6
Condition: not provided
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253786

rs_121434405

4 SubmittersRCV000006556 RCV000627210 RCV001217229

NM_000969.5(RPL5):c.73+2T>G

SNV
Germline

Chr1:92833460

Pathogenic

Diamond-Blackfan anemia 6

No Assertion Criteria Provided

rs_142156224

1 SubmittersRCV000006561

NM_001014.5(RPS10):c.3G>A (p.Met1Ile)

SNV
Germline

Chr6:34425219

Pathogenic

Diamond-Blackfan anemia 9

No Assertion Criteria Provided

CA253789

rs_267607021

1 SubmittersRCV000006562

NM_001014.5(RPS10):c.337C>T (p.Arg113Ter)

SNV
Germline

Chr6:34421793

Pathogenic

Diamond-Blackfan anemia 9
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA253791

rs_267607022

3 SubmittersRCV000006564 RCV001851701

NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)

SNV
Germline

Chr19:41869138

Pathogenic

Diamond-Blackfan anemia 1
Condition: not provided
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA130761

rs_61762293

5 SubmittersRCV000033182 RCV000272977 RCV002433445

NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)

SNV
Germline

Chr19:41869042

Pathogenic

Diamond-Blackfan anemia 1
Condition: not provided
Diamond-Blackfan anemia
RPS19-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130763

rs_104894711

6 SubmittersRCV000033183 RCV000497714 RCV001065746 RCV003415668

NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)

SNV
Germline

Chr19:41861138

Pathogenic

Diamond-Blackfan anemia 1
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA130764

rs_104894716

3 SubmittersRCV000033184 RCV001237459

NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)

SNV
Germline

Chr19:41869108

Pathogenic

Diamond-Blackfan anemia 1

No Assertion Criteria Provided

CA130766

rs_121908649

1 SubmittersRCV000033185

NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)

SNV
Germline

Chr19:41869722

Likely pathogenic

Diamond-Blackfan anemia 1
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA130769

rs_786200936

2 SubmittersRCV000033189 RCV002512845

NM_033022.4(RPS24):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr10:78037230

Pathogenic

Diamond-Blackfan anemia 3

No Assertion Criteria Provided

CA340655

rs_104894188

1 SubmittersRCV000007667

NM_033022.4(RPS24):c.46C>T (p.Arg16Ter)

SNV
Germline

Chr10:78035394

Pathogenic

Diamond-Blackfan anemia 3
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA340658

rs_104894189

2 SubmittersRCV000007668 RCV000638824

NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)

SNV
Germline

ChrX:48792371

Pathogenic

Beta-thalassemia-X-linked thrombocytopenia syndrome
Condition: not provided
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis

Criteria Provided
Multiple Submitters
No Conflicts

CA340965

rs_104894809

9 SubmittersRCV000011173 RCV001701722 RCV001542263 RCV003137511 RCV001382887

NM_001021.6(RPS17):c.2T>G (p.Met1Arg)

SNV
Germline

Chr15:82540427

Pathogenic

Diamond-Blackfan anemia 4
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA341244

rs_116840811

2 SubmittersRCV000013873 RCV002433453

NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)

SNV
Germline

Chr3:197951244

Pathogenic

Diamond-Blackfan anemia 5

No Assertion Criteria Provided

CA341247

rs_116840808

1 SubmittersRCV000013875

NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter)

SNV
Germline

Chr3:197954142

Pathogenic

Diamond-Blackfan anemia 5

No Assertion Criteria Provided

CA341250

rs_116840809

1 SubmittersRCV000013877

NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter)

SNV
Germline

Chr15:82538982

Pathogenic

Diamond-Blackfan anemia 4

No Assertion Criteria Provided

CA267568

rs_6991

1 SubmittersRCV000087020

NM_000969.5(RPL5):c.244G>T (p.Glu82Ter)

SNV
Germline

Chr1:92834833

Pathogenic

Diamond-Blackfan anemia 6
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA267570

rs_587777117

2 SubmittersRCV000087038 RCV002444558

NM_000969.5(RPL5):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr1:92837592

Pathogenic

Diamond-Blackfan anemia 6

Criteria Provided
Single Submitter

CA267572

rs_587777118

2 SubmittersRCV000087039

NM_001032.5(RPS29):c.91A>T (p.Ile31Phe)

SNV
Germline

Chr14:49586021

Pathogenic

Diamond-Blackfan anemia 13

No Assertion Criteria Provided

CA163477

rs_587777568

1 SubmittersRCV000128850

NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)

SNV
Germline

Chr14:49585963

Likely pathogenic

Diamond-Blackfan anemia 13

Criteria Provided
Single Submitter

CA163479

rs_587777569

2 SubmittersRCV000128851

NM_002049.4(GATA1):c.2T>C (p.Met1Thr)

SNV
Germline

ChrX:48791111

Pathogenic

Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis

Criteria Provided
Single Submitter

CA345934

rs_587776451

3 SubmittersRCV000144252 RCV000754842 RCV001382885

NM_002049.4(GATA1):c.220G>C (p.Val74Leu)

SNV
Germline

ChrX:48791329

Pathogenic

X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA345938

rs_587776452

3 SubmittersRCV000011175 RCV000144253 RCV001857491

NM_058163.3(TSR2):c.191A>G (p.Glu64Gly)

SNV
Germline

ChrX:54443418

Pathogenic

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Criteria Provided
Single Submitter

CA198541

rs_786203996

2 SubmittersRCV000167572 RCV000191915

NM_001031.5(RPS28):c.1A>G (p.Met1Val)

SNV
Germline

Chr19:8321531

Pathogenic

Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Criteria Provided
Multiple Submitters
No Conflicts

CA198543

rs_786203997

3 SubmittersRCV000167573

NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)

SNV
Germline

Chr12:56043440

Pathogenic

Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA205000

rs_148942765

4 SubmittersRCV000167574 RCV000191914 RCV002433720

NM_001029.5(RPS26):c.4-2A>T

SNV
Germline

Chr12:56042423

Pathogenic

Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Criteria Provided
Single Submitter

CA204999

rs_786203998

2 SubmittersRCV000167575 RCV000191913

NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr12:56042476

Pathogenic

Diamond-Blackfan anemia 10

Criteria Provided
Multiple Submitters
No Conflicts

CA277448

rs_797045919

2 SubmittersRCV000195166

NM_000975.5(RPL11):c.258T>G (p.Gly86=)

SNV
Germline

Chr1:23693907

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
Diamond-Blackfan anemia 7

Criteria Provided
Conflicting Classifications

CA684223

rs_760885169

2 SubmittersRCV001442071 RCV003129814

NM_000969.5(RPL5):c.326T>C (p.Leu109Pro)

SNV
Germline

Chr1:92836191

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA10581818

rs_878854146

1 SubmittersRCV000229721

NM_033022.4(RPS24):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:78033902

Pathogenic

Condition: not provided
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10588481

rs_886039545

3 SubmittersRCV000255670 RCV000551919

NM_000975.5(RPL11):c.306T>C (p.Thr102=)

SNV
Germline

Chr1:23694701

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 7
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

CA10610595

rs_886046309

2 SubmittersRCV000284208 RCV001452040

NM_000975.5(RPL11):c.158-7C>T

SNV
Germline

Chr1:23693800

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 7
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

CA684202

rs_768654673

2 SubmittersRCV000347577 RCV003507273

NM_000969.5(RPL5):c.325-11T>G

SNV
Germline

Chr1:92836179

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 6
Condition: not provided
not specified
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

CA952446

rs_145058455

6 SubmittersRCV000361575 RCV001582922 RCV001820862 RCV002059503

NM_000969.5(RPL5):c.403A>G (p.Ile135Val)

SNV
Germline

Chr1:92836268

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 6
Diamond-Blackfan anemia
not specified

Criteria Provided
Conflicting Classifications

CA952458

rs_200075817

4 SubmittersRCV000406449 RCV002059504 RCV003151016

NM_001011.4(RPS7):c.39C>T (p.Gly13=)

SNV
Germline

Chr2:3575648

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
Diamond-Blackfan anemia 8

Criteria Provided
Conflicting Classifications

CA1516521

rs_746686516

2 SubmittersRCV000353551 RCV001035733

NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)

SNV
Germline

Chr19:41860842

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
Diamond-Blackfan anemia 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9465269

rs_143477104

5 SubmittersRCV000358661 RCV001094592 RCV001564337 RCV001820988

NM_001029.5(RPS26):c.93C>T (p.Pro31=)

SNV
Germline

Chr12:56042514

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 10
not specified
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

CA6621704

rs_760255764

3 SubmittersRCV000312072 RCV000502146 RCV002374530

NM_001011.4(RPS7):c.76-1G>T

SNV
Germline

Chr2:3575816

Pathogenic

Diamond-Blackfan anemia 8

No Assertion Criteria Provided

CA16609340

rs_1057519624

1 SubmittersRCV000412538

NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)

SNV
Germline

Chr19:41869748

Pathogenic

Condition: not provided
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA16043115

rs_144337183

3 SubmittersRCV000414046 RCV002323577

NM_001022.4(RPS19):c.3G>T (p.Met1Ile)

SNV
Germline

Chr19:41860777

Pathogenic

Condition: not provided
Diamond-Blackfan anemia
Diamond-Blackfan anemia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16043205

rs_138938035

4 SubmittersRCV000413436 RCV002374616 RCV003168598

NM_002049.4(GATA1):c.622G>A (p.Gly208Arg)

SNV
Germline

ChrX:48792346

Conflicting classifications of pathogenicity

Condition: not provided
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

CA16043250

rs_587776454

2 SubmittersRCV000414345 RCV003766149

NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)

SNV
Germline

Chr1:92833603

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA16610155

rs_1060503527

1 SubmittersRCV000466439

NM_000969.5(RPL5):c.228C>T (p.Cys76=)

SNV
Germline

Chr1:92834817

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
Diamond-Blackfan anemia 6

Criteria Provided
Conflicting Classifications

CA952411

rs_370284124

3 SubmittersRCV000474544 RCV001099576

NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)

SNV
Germline

Chr19:41869724

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA16616275

rs_1060503688

1 SubmittersRCV000462953

NM_000988.5(RPL27):c.-2-1G>A

SNV
Germline

Chr17:42998748

Pathogenic

Diamond-Blackfan anemia 16

No Assertion Criteria Provided

CA645293903

rs_1085307119

1 SubmittersRCV000477703

NM_001021.6(RPS17):c.159T>C (p.Tyr53=)

SNV
Germline

Chr15:82538982

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

CA273932819

rs_6991

2 SubmittersRCV000478127 RCV002402391

NM_033022.4(RPS24):c.189T>C (p.His63=)

SNV
Germline

Chr10:78035630

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia
RPS24-related disorder

Criteria Provided
Conflicting Classifications

CA5571960

rs_201805132

4 SubmittersRCV000503744 RCV000638829 RCV003902793

NM_001022.4(RPS19):c.1-7C>T

SNV
Germline

Chr19:41860768

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia 1

Criteria Provided
Conflicting Classifications

CA9465249

rs_782801643

2 SubmittersRCV000501777 RCV001133649

NM_001022.4(RPS19):c.356+3A>C

SNV
Germline

Chr19:41869217

Likely pathogenic

Diamond-Blackfan anemia 1

No Assertion Criteria Provided

CA645372649

rs_1555841379

1 SubmittersRCV000503534

NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)

SNV
Germline

Chr1:92836291

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
Diamond-Blackfan anemia 6

Criteria Provided
Conflicting Classifications

CA952466

rs_11540836

3 SubmittersRCV000536846 RCV002476139

NM_001014.5(RPS10):c.261G>A (p.Pro87=)

SNV
Germline

Chr6:34424730

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
not specified
Diamond-Blackfan anemia 9

Criteria Provided
Conflicting Classifications

CA3765094

rs_781484971

4 SubmittersRCV000528370 RCV001821536 RCV002483409

NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)

SNV
Germline

Chr19:41869043

Pathogenic

Diamond-Blackfan anemia
Condition: not provided
RPS19-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA406029872

rs_1555841301

5 SubmittersRCV000538681 RCV001702674 RCV003900162

NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)

SNV
Germline/somatic

ChrX:48791198

Pathogenic

Acute megakaryoblastic leukemia in down syndrome
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA412866876

rs_1557020021

2 SubmittersRCV001293757 RCV002232272

NM_002049.4(GATA1):c.94G>A (p.Val32Ile)

SNV
Germline

ChrX:48791203

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Complete trisomy 21 syndrome
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Beta-thalassemia-X-linked thrombocytopenia syndrome
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10404535

rs_782698349

3 SubmittersRCV000533431 RCV000766096 RCV003133317

NM_000799.4(EPO):c.530G>A (p.Arg177Gln)

SNV
Germline

Chr7:100723081

Pathogenic

Diamond-Blackfan anemia-like

No Assertion Criteria Provided

CA368560830

rs_1358275550

1 SubmittersRCV000590853

NM_001022.4(RPS19):c.72-15C>G

SNV
Germline

Chr19:41861097

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia
Diamond-Blackfan anemia 1

Criteria Provided
Conflicting Classifications

CA658799235

rs_530537278

3 SubmittersRCV000608442 RCV001868044 RCV003147520

NM_000975.5(RPL11):c.264+1G>A

SNV
Germline

Chr1:23693914

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

CA338993022

rs_1553121795

1 SubmittersRCV000638825

NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)

SNV
Germline

Chr3:197954050

Pathogenic

Diamond-Blackfan anemia 5

Criteria Provided
Single Submitter

CA355884581

rs_1553811551

1 SubmittersRCV000646032

NM_033022.4(RPS24):c.148A>C (p.Thr50Pro)

SNV
Germline

Chr10:78035589

Pathogenic

Diamond-Blackfan anemia 3

Criteria Provided
Single Submitter

rs_1554841994

1 SubmittersRCV000664315

NM_000969.5(RPL5):c.70C>T (p.Arg24Ter)

SNV
Germline

Chr1:92833455

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1558283853

1 SubmittersRCV000694413

NM_000969.5(RPL5):c.187C>T (p.Gln63Ter)

SNV
Germline

Chr1:92833658

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1558284062

1 SubmittersRCV000691705

NM_002049.4(GATA1):c.220+1G>C

SNV
Germline

ChrX:48791330

Likely pathogenic

GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1569499366

1 SubmittersRCV002232859

NM_001019.5(RPS15A):c.213G>A (p.Lys71=)

SNV
Germline

Chr16:18788063

Pathogenic

Diamond-Blackfan anemia 20

No Assertion Criteria Provided

rs_1567287990

1 SubmittersRCV000754827

NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)

SNV
Germline

Chr19:48617362

Pathogenic

Diamond-Blackfan anemia 18

No Assertion Criteria Provided

rs_1568425218

1 SubmittersRCV000754828

NM_007209.4(RPL35):c.231G>C (p.Lys77Asn)

SNV
Germline

Chr9:124858059

Pathogenic

Diamond-Blackfan anemia 19

No Assertion Criteria Provided

rs_1564307664

1 SubmittersRCV000754834

NM_002948.5(RPL15):c.172+5G>A

SNV
Germline

Chr3:23918036

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 12
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_369956511

2 SubmittersRCV000768300 RCV001501852

NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)

SNV
Germline

Chr1:92837629

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 6
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

rs_576330538

2 SubmittersRCV000791214 RCV002536927

NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)

SNV
Germline

Chr1:92833433

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_148673599

1 SubmittersRCV000822654

NM_000975.5(RPL11):c.508-2A>G

SNV
Germline

Chr1:23696342

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1570569383

1 SubmittersRCV000792669

NM_001022.4(RPS19):c.72-1G>A

SNV
Germline

Chr19:41861111

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_146366047

1 SubmittersRCV000801996

NM_001022.4(RPS19):c.173-2A>G

SNV
Germline

Chr19:41869029

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_111833764

1 SubmittersRCV000798302

NM_001011.4(RPS7):c.508-3T>G

SNV
Germline

Chr2:3580802

Likely pathogenic

Diamond-Blackfan anemia 8

No Assertion Criteria Provided

rs_1572360944

1 SubmittersRCV000853497

NM_002049.4(GATA1):c.93G>T (p.Gly31=)

SNV
Germline

ChrX:48791202

Conflicting classifications of pathogenicity

GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia
not specified

Criteria Provided
Conflicting Classifications

rs_368193049

2 SubmittersRCV000864137 RCV001816961

NM_002049.4(GATA1):c.571C>T (p.Arg191Cys)

SNV
Germline

ChrX:48792194

Conflicting classifications of pathogenicity

GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia
not specified

Criteria Provided
Conflicting Classifications

rs_140561920

2 SubmittersRCV000862181 RCV001816944

NM_000975.5(RPL11):c.396+9A>G

SNV
Germline

Chr1:23694800

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
Diamond-Blackfan anemia 7

Criteria Provided
Conflicting Classifications

rs_201786327

4 SubmittersRCV000861227 RCV001100324

NM_033022.4(RPS24):c.3+7C>T

SNV
Germline

Chr10:78033911

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 3
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

rs_759947869

2 SubmittersRCV001105092 RCV002064457

NM_001022.4(RPS19):c.214G>T (p.Val72Phe)

SNV
Germline

Chr19:41869072

Conflicting classifications of pathogenicity

Landsteiner-Wiener phenotype
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

rs_1600621248

2 SubmittersRCV000990220 RCV001858721

NM_001022.4(RPS19):c.3G>A (p.Met1Ile)

SNV
Germline

Chr19:41860777

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_138938035

2 SubmittersRCV001066690

NM_001014.5(RPS10):c.401-2A>G

SNV
Germline

Chr6:34418426

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1765648528

1 SubmittersRCV001035752

NM_000996.4(RPL35A):c.164+1G>A

SNV
Germline

Chr3:197951312

Likely pathogenic

Diamond-Blackfan anemia 5

Criteria Provided
Single Submitter

rs_113752862

1 SubmittersRCV001045886

NM_002948.5(RPL15):c.314G>T (p.Arg105Leu)

SNV
Germline

Chr3:23919200

Likely pathogenic

Diamond-Blackfan anemia 12

Criteria Provided
Single Submitter

rs_1704930969

1 SubmittersRCV001089984

NM_000975.5(RPL11):c.264+9A>T

SNV
Germline

Chr1:23693922

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 7
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

rs_777041270

2 SubmittersRCV001098558 RCV002554927

NM_000969.5(RPL5):c.3+11G>C

SNV
Germline

Chr1:92832128

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 6
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

rs_376414614

2 SubmittersRCV001097785 RCV003769052

NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)

SNV
Germline

ChrX:48791144

Pathogenic/Likely pathogenic

Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Complete trisomy 21 syndrome
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Beta-thalassemia-X-linked thrombocytopenia syndrome
GATA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2062673416

3 SubmittersRCV001224493 RCV002504289 RCV003398968

NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)

SNV
Germline

ChrX:48791158

Pathogenic

Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis

Criteria Provided
Single Submitter

rs_2062673523

1 SubmittersRCV001216172

NM_001029.5(RPS26):c.2T>G (p.Met1Arg)

SNV
Germline

Chr12:56042168

Pathogenic

Diamond-Blackfan anemia 10

Criteria Provided
Single Submitter

rs_1895894261

1 SubmittersRCV001202198

NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)

SNV
Germline

Chr12:56043377

Pathogenic

Diamond-Blackfan anemia 10

Criteria Provided
Single Submitter

rs_1895918140

1 SubmittersRCV001202461

NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)

SNV
Germline

Chr19:41861139

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2074026880

1 SubmittersRCV001210127

NM_002049.4(GATA1):c.220+1G>A

SNV
Germline

ChrX:48791330

Likely pathogenic

GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1569499366

1 SubmittersRCV001229278

NM_001011.4(RPS7):c.-19+1G>A

SNV
Germline

Chr2:3575351

Likely pathogenic

Diamond-Blackfan anemia 8

Criteria Provided
Single Submitter

rs_1064796859

2 SubmittersRCV001252962

NM_001022.4(RPS19):c.393G>A (p.Leu131=)

SNV
Germline

Chr19:41869735

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 1
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

rs_1447794153

2 SubmittersRCV001255174 RCV001435349

NM_001023.4(RPS20):c.251T>G (p.Ile84Ser)

SNV
Germline

Chr8:56073199

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1809815205

1 SubmittersRCV001267810

NM_001023.4(RPS20):c.251T>A (p.Ile84Asn)

SNV
Germline

Chr8:56073199

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1809815205

1 SubmittersRCV001267811

NM_000969.5(RPL5):c.189+2T>G

SNV
Unknown

Chr1:92833662

Likely pathogenic

Diamond-Blackfan anemia 6

No Assertion Criteria Provided

rs_1687004626

1 SubmittersRCV001267892

NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr)

SNV
Germline

Chr3:197951236

Likely pathogenic

Diamond-Blackfan anemia 5

Criteria Provided
Single Submitter

rs_1720051488

1 SubmittersRCV001305334

NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)

SNV
Germline

Chr19:41860827

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2074021310

1 SubmittersRCV001303198

NM_000996.4(RPL35A):c.12-5C>G

SNV
Germline

Chr3:197951154

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 5
Diamond-Blackfan anemia
RPL35A-related disorder

Criteria Provided
Conflicting Classifications

rs_541454864

3 SubmittersRCV001314763 RCV002412007 RCV003953655

NM_001011.4(RPS7):c.75+1G>A

SNV
Germline

Chr2:3575685

Pathogenic

Diamond-Blackfan anemia 8

Criteria Provided
Single Submitter

rs_1661257691

1 SubmittersRCV001333634

NM_000969.5(RPL5):c.4-10T>A

SNV
Germline

Chr1:92833379

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1686989669

1 SubmittersRCV001377843

NM_000975.5(RPL11):c.121G>T (p.Glu41Ter)

SNV
Germline

Chr1:23692723

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2124429140

1 SubmittersRCV001381985

NM_000969.5(RPL5):c.1A>C (p.Met1Leu)

SNV
Germline

Chr1:92832115

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2100672432

1 SubmittersRCV001380814

NM_001014.5(RPS10):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:34425221

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2113806114

1 SubmittersRCV001381292

NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)

SNV
Germline

Chr19:41869043

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_1555841301

1 SubmittersRCV001383782

NM_002049.4(GATA1):c.3G>T (p.Met1Ile)

SNV
Germline

ChrX:48791112

Pathogenic

Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis

Criteria Provided
Single Submitter

rs_2147305526

1 SubmittersRCV001380283

NM_001022.4(RPS19):c.192G>C (p.Leu64=)

SNV
Germline

Chr19:41869050

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
not specified

Criteria Provided
Conflicting Classifications

rs_144069838

2 SubmittersRCV001506179 RCV001821800

NM_002049.4(GATA1):c.173C>T (p.Ala58Val)

SNV
Germline

ChrX:48791282

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782299679

2 SubmittersRCV001517163 RCV003132511

NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro)

SNV
Germline

ChrX:48794079

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
GATA1-related disorder

Criteria Provided
Conflicting Classifications

rs_782120820

2 SubmittersRCV001512605 RCV003416377

NM_000975.5(RPL11):c.397-2A>G

SNV
Germline

Chr1:23695796

Likely pathogenic

Condition: not provided
Diamond-Blackfan anemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2124432051

2 SubmittersRCV001554969 RCV002359168

NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)

SNV
Germline

Chr16:50070178

Pathogenic

Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 21

No Assertion Criteria Provided

rs_1184398890

2 SubmittersRCV002221164 RCV002291225

NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu)

SNV
Germline

Chr16:50102266

Pathogenic/Likely pathogenic

Diamond-Blackfan anemia
Diamond-Blackfan anemia 21

No Assertion Criteria Provided

rs_917466219

2 SubmittersRCV001774816 RCV002291226

NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr)

SNV
Germline

Chr16:50084615

Pathogenic

Diamond-Blackfan anemia
Diamond-Blackfan anemia 21

No Assertion Criteria Provided

rs_2150610519

2 SubmittersRCV002225143 RCV002291227

NM_001029.5(RPS26):c.3+2T>G

SNV
Germline

Chr12:56042171

Likely pathogenic

Diamond-Blackfan anemia 10

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136753495

2 SubmittersRCV001783693

NM_182922.4(HEATR3):c.399+1G>T

SNV
Germline

Chr16:50068868

Pathogenic

Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 21

Criteria Provided
Single Submitter

rs_2150594383

2 SubmittersRCV001809317 RCV002291228

NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)

SNV
Germline

Chr16:50075667

Pathogenic

Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 21

Criteria Provided
Single Submitter

rs_2150600578

2 SubmittersRCV001809318 RCV002291229

NM_000969.5(RPL5):c.*1A>G

SNV
Germline

Chr1:92841866

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

rs_11540833

2 SubmittersRCV001822272 RCV002334708

NM_001011.4(RPS7):c.525T>G (p.Gly175=)

SNV
Germline

Chr2:3580822

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia 8

Criteria Provided
Conflicting Classifications

rs_1392470365

2 SubmittersRCV001817611 RCV002074294

NM_002049.4(GATA1):c.871-7T>C

SNV
Germline

ChrX:48793786

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371752832

3 SubmittersRCV001819283 RCV002077292 RCV002261388

NM_001029.5(RPS26):c.42C>T (p.Gly14=)

SNV
Germline

Chr12:56042463

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia 10

Criteria Provided
Conflicting Classifications

rs_771196681

2 SubmittersRCV001820485 RCV003507399

NM_001011.4(RPS7):c.148-6C>T

SNV
Germline

Chr2:3576481

Conflicting classifications of pathogenicity

not specified
Diamond-Blackfan anemia 8

Criteria Provided
Conflicting Classifications

rs_533287773

2 SubmittersRCV001820644 RCV002074342

NM_000975.5(RPL11):c.265-2A>G

SNV
Germline

Chr1:23694658

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2124430919

1 SubmittersRCV001989229

NM_001022.4(RPS19):c.71+1G>C

SNV
Germline

Chr19:41860846

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2123256342

1 SubmittersRCV002031373

NM_000969.5(RPL5):c.527+1G>T

SNV
Germline

Chr1:92836393

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2100685111

1 SubmittersRCV001971307

NM_001022.4(RPS19):c.173-1G>T

SNV
Germline

Chr19:41869030

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2123283622

1 SubmittersRCV001876903

NM_000969.5(RPL5):c.74-2A>G

SNV
Germline

Chr1:92833543

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_2100676852

1 SubmittersRCV002045961

NM_001022.4(RPS19):c.356+1G>A

SNV
Germline

Chr19:41869215

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

rs_879993801

1 SubmittersRCV002010419

NM_001011.4(RPS7):c.66C>T (p.Gly22=)

SNV
Germline

Chr2:3575675

Conflicting classifications of pathogenicity

Condition: not provided
Diamond-Blackfan anemia
Diamond-Blackfan anemia 8

Criteria Provided
Conflicting Classifications

rs_773617808

3 SubmittersRCV002224134 RCV003170435 RCV001986132

NM_001029.5(RPS26):c.4-4G>T

SNV
Germline

Chr12:56042421

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 10
Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

rs_2136753773

2 SubmittersRCV002191214 RCV002331834

NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp)

SNV
Germline

ChrX:48793989

Conflicting classifications of pathogenicity

GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_202091014

2 SubmittersRCV002190089 RCV002560775

NM_000969.5(RPL5):c.189+1G>C

SNV
Germline

Chr1:92833661

Likely pathogenic

Diamond-Blackfan anemia 6

Criteria Provided
Single Submitter

1 SubmittersRCV002283677

NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)

SNV
Germline

Chr1:23692726

Pathogenic

Diamond-Blackfan anemia 7

Criteria Provided
Single Submitter

1 SubmittersRCV002283845

NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)

SNV
Germline

Chr3:197951272

Conflicting classifications of pathogenicity

Condition: not provided
Diamond-Blackfan anemia
Diamond-Blackfan anemia 5

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002308738 RCV002427776 RCV003514552

NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)

SNV
Germline

Chr19:41860808

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002459131

NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)

SNV
Germline

Chr1:92836250

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002355543

NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr1:23694723

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002326146

NM_000969.5(RPL5):c.3G>A (p.Met1Ile)

SNV
Germline

Chr1:92832117

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002375646

NM_001022.4(RPS19):c.3G>C (p.Met1Ile)

SNV
Germline

Chr19:41860777

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002375652

NM_001029.5(RPS26):c.312+1G>C

SNV
Germline

Chr12:56043494

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002320488

NM_001029.5(RPS26):c.313-2A>G

SNV
Germline

Chr12:56044117

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002320613

NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)

SNV
Germline

Chr1:92836277

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002333052

NM_000975.5(RPL11):c.6+2T>C

SNV
Germline

Chr1:23691831

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002358008

NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)

SNV
Germline

Chr1:92833433

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002340604

NM_000975.5(RPL11):c.508-1G>A

SNV
Germline

Chr1:23696343

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002335895

NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)

SNV
Germline

Chr19:41861119

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002419137

NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)

SNV
Germline

Chr1:92840587

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002385015

NM_000975.5(RPL11):c.158-1G>C

SNV
Germline

Chr1:23693806

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002405819

NM_000975.5(RPL11):c.158-2A>C

SNV
Germline

Chr1:23693805

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002405831

NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)

SNV
Germline

Chr19:41861180

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002389464

NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)

SNV
Germline

Chr19:41861202

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002401241

NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)

SNV
Germline

Chr19:41861207

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002406005

NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)

SNV
Germline

Chr19:41861207

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002406012

NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)

SNV
Germline

Chr19:41869034

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002407657

NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)

SNV
Germline

Chr19:41869049

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002410682

NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)

SNV
Germline

Chr12:56043402

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002428064

NM_001021.6(RPS17):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:82540428

Pathogenic

Diamond-Blackfan anemia
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV002417107 RCV003151406

NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)

SNV
Germline

Chr1:92833407

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002428467

NM_033022.4(RPS24):c.279+5G>T

SNV
Germline

Chr10:78035725

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002441408

NM_033022.4(RPS24):c.2T>C (p.Met1Thr)

SNV
Germline

Chr10:78033903

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002435644

NM_001029.5(RPS26):c.2T>C (p.Met1Thr)

SNV
Germline

Chr12:56042168

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002435649

NM_001029.5(RPS26):c.3+1G>T

SNV
Germline

Chr12:56042170

Pathogenic/Likely pathogenic

Diamond-Blackfan anemia
Diamond-Blackfan anemia 10

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002435658 RCV003225993

NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)

SNV
Germline

Chr19:41869159

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002435862

NM_000969.5(RPL5):c.3+1G>A

SNV
Germline

Chr1:92832118

Pathogenic/Likely pathogenic

Diamond-Blackfan anemia 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002466790

NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)

SNV
Germline

Chr19:41861134

Pathogenic

Diamond-Blackfan anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003064586 RCV003126268

NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)

SNV
Germline

Chr19:41861206

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003064587

NM_000969.5(RPL5):c.2T>G (p.Met1Arg)

SNV
Germline

Chr1:92832116

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV002648164

NM_002049.4(GATA1):c.962T>C (p.Leu321Pro)

SNV
Germline

ChrX:48793884

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002650545 RCV003134472

NM_000969.5(RPL5):c.72A>G (p.Arg24=)

SNV
Germline

Chr1:92833457

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
Diamond-Blackfan anemia 6

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002862206 RCV003134511

NM_002049.4(GATA1):c.338G>A (p.Arg113His)

SNV
Germline

ChrX:48791961

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002885313 RCV003326641

NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)

SNV
Germline

Chr2:3575820

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 8

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002894936

NM_001021.6(RPS17):c.156-1G>A

SNV
Germline

Chr15:82538986

Likely pathogenic

Diamond-Blackfan anemia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003111527

NM_001029.5(RPS26):c.181+1G>A

SNV
Germline

Chr12:56042603

Likely pathogenic

Diamond-Blackfan anemia 10

Criteria Provided
Single Submitter

1 SubmittersRCV003133807

NM_000969.5(RPL5):c.715A>G (p.Met239Val)

SNV
Germline

Chr1:92840560

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 6

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003135801

NM_001029.5(RPS26):c.344T>C (p.Met115Thr)

SNV
Germline

Chr12:56044150

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 10
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003135804 RCV003328723

NM_002049.4(GATA1):c.507C>T (p.Ser169=)

SNV
Germline

ChrX:48792130

Conflicting classifications of pathogenicity

Condition: not provided
Diamond-Blackfan anemia
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003130987 RCV003778700

NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)

SNV
Germline

Chr3:23917944

Pathogenic

Diamond-Blackfan anemia 12

No Assertion Criteria Provided

1 SubmittersRCV003228755

NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)

SNV
Germline

Chr3:23917888

Pathogenic

Diamond-Blackfan anemia 12

No Assertion Criteria Provided

1 SubmittersRCV003228756

NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)

SNV
Germline

Chr3:23919344

Pathogenic

Diamond-Blackfan anemia 12

No Assertion Criteria Provided

1 SubmittersRCV003228757

NM_000987.5(RPL26):c.-5-2A>G

SNV
Germline

Chr17:8382317

Likely pathogenic

Diamond-Blackfan anemia 11

Criteria Provided
Single Submitter

1 SubmittersRCV004527283

NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)

SNV
Germline

ChrX:48791305

Conflicting classifications of pathogenicity

GATA1-related disorder
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003392805 RCV003778286 RCV004362864

NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr19:41869718

Pathogenic

Diamond-Blackfan anemia 1

Criteria Provided
Single Submitter

1 SubmittersRCV003486298

NM_001029.5(RPS26):c.2T>A (p.Met1Lys)

SNV
Germline

Chr12:56042168

Likely pathogenic

Diamond-Blackfan anemia 10

Criteria Provided
Single Submitter

1 SubmittersRCV003486337

NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)

SNV
Germline

Chr10:78037206

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003507638

NM_001011.4(RPS7):c.-19+1G>T

SNV
Germline

Chr2:3575351

Pathogenic

Diamond-Blackfan anemia 8

Criteria Provided
Single Submitter

1 SubmittersRCV003507623

NM_001022.4(RPS19):c.357-2A>G

SNV
Germline

Chr19:41869697

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003508878

NM_001011.4(RPS7):c.-19+2T>A

SNV
Germline

Chr2:3575352

Pathogenic

Diamond-Blackfan anemia 8

Criteria Provided
Single Submitter

1 SubmittersRCV003507711

NM_001022.4(RPS19):c.1A>C (p.Met1Leu)

SNV
Germline

Chr19:41860775

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003615999

NM_001022.4(RPS19):c.412-2A>G

SNV
Germline

Chr19:41871349

Pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003616000

NM_001011.4(RPS7):c.75+1G>T

SNV
Germline

Chr2:3575685

Likely pathogenic

Diamond-Blackfan anemia 8

Criteria Provided
Single Submitter

1 SubmittersRCV003615991

NM_000969.5(RPL5):c.4-1G>A

SNV
Germline

Chr1:92833388

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003615722

NM_002049.4(GATA1):c.186C>G (p.Tyr62Ter)

SNV
Germline

ChrX:48791295

Pathogenic

GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003795206

NM_002049.4(GATA1):c.220+1G>T

SNV
Germline

ChrX:48791330

Pathogenic

GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV003817980

NM_001022.4(RPS19):c.169G>C (p.Ala57Pro)

SNV
Germline

Chr19:41861209

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV004521045

NM_001022.4(RPS19):c.353A>G (p.Asp118Gly)

SNV
Germline

Chr19:41869211

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV004556141

NM_001022.4(RPS19):c.362G>T (p.Arg121Leu)

SNV
Germline

Chr19:41869704

Likely pathogenic

Diamond-Blackfan anemia

Criteria Provided
Single Submitter

1 SubmittersRCV004556142