Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)	SNV Germline	Chr15:90769553	Conflicting classifications of pathogenicity	Bloom syndrome not specified	Criteria Provided Conflicting Classifications		rs_767086502	2 SubmittersRCV003474363 RCV003479527
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe)	SNV Unknown	Chr15:90794254	Pathogenic	Bloom syndrome	No Assertion Criteria Provided	CA253496	rs_137853153	1 SubmittersRCV000005790
NM_000057.4(BLM):c.2074+1G>T	SNV Germline	Chr15:90763158	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA344501	rs_367543036	3 SubmittersRCV000034892
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)	SNV Germline	Chr15:90765319	Pathogenic	Bloom syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA344502	rs_367543028	8 SubmittersRCV000034893 RCV000317685 RCV001014425
NM_000057.4(BLM):c.2406+2T>G	SNV Germline	Chr15:90769233	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_367543016	2 SubmittersRCV001806715
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)	SNV Germline	Chr15:90782909	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA344509	rs_367543039	5 SubmittersRCV001231693 RCV002426543
NM_000057.4(BLM):c.311C>A (p.Ser104Ter)	SNV Germline	Chr15:90749579	Pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_367543030	2 SubmittersRCV002238626
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)	SNV Germline	Chr15:90794311	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA298493	rs_367543029	9 SubmittersRCV000034904 RCV000569697
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter)	SNV Germline	Chr15:90798257	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_367543017	1 SubmittersRCV001941615
NM_000057.4(BLM):c.3558+1G>A	SNV Germline	Chr15:90803721	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_148969222	1 SubmittersRCV003041245
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)	SNV Germline	Chr15:90809232	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA344538	rs_367543031	6 SubmittersRCV000034915 RCV002354185
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)	SNV Germline	Chr15:90760156	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287049	rs_571152089	6 SubmittersRCV000115278 RCV000477302 RCV000574582
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	SNV Germline	Chr15:90747403	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided BLM-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA287052	rs_144706057	18 SubmittersRCV000115279 RCV000210906 RCV000562058 RCV000656774 RCV003935097 RCV003492469
NM_000057.4(BLM):c.1315A>G (p.Met439Val)	SNV Germline	Chr15:90760688	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA287058	rs_201231857	11 SubmittersRCV000115281 RCV000234473 RCV000574443 RCV001818261
NM_000057.4(BLM):c.1348A>G (p.Met450Val)	SNV Germline	Chr15:90760721	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287061	rs_200385935	4 SubmittersRCV000115282 RCV001222033 RCV002381418
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	SNV Germline	Chr15:90760974	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA247014	rs_35224686	11 SubmittersRCV000465434 RCV000575229 RCV000724734 RCV001818262
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	SNV Germline	Chr15:90761015	Pathogenic	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome BLM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA270826	rs_200389141	28 SubmittersRCV000115284 RCV000144577 RCV000574676 RCV003952547
NM_000057.4(BLM):c.191A>T (p.Asp64Val)	SNV Germline	Chr15:90749459	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA243084	rs_140382474	13 SubmittersRCV000460513 RCV000574815 RCV000656775 RCV001800401
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	SNV Germline	Chr15:90763011	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided BLM-related disorder	Criteria Provided Conflicting Classifications	CA152050	rs_12720097	20 SubmittersRCV000116502 RCV000211548 RCV000565415 RCV000857778 RCV003891606
NM_000057.4(BLM):c.2074+5G>A	SNV Germline	Chr15:90763162	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287064	rs_587779880	3 SubmittersRCV000115287 RCV000812341 RCV002415592
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	SNV Germline	Chr15:90765340	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided BLM-related disorder	Criteria Provided Conflicting Classifications	CA274808	rs_146077918	20 SubmittersRCV000115288 RCV000172805 RCV000563887 RCV000857591 RCV003952548
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)	SNV Germline	Chr15:90769158	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Bloom syndrome	Criteria Provided Conflicting Classifications	CA287068	rs_139610577	11 SubmittersRCV000115291 RCV000562292 RCV000656782 RCV001080005
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)	SNV Germline	Chr15:90769187	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Bloom syndrome not specified BLM-related disorder	Criteria Provided Conflicting Classifications	CA287071	rs_149754073	8 SubmittersRCV000115292 RCV000564057 RCV001082972 RCV001818263 RCV003407494
NM_000057.4(BLM):c.2475G>A (p.Pro825=)	SNV Germline	Chr15:90769506	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287077	rs_147587050	6 SubmittersRCV000115294 RCV000542801 RCV000573420
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)	SNV Germline	Chr15:90782904	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Bloom syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA157385	rs_201770808	8 SubmittersRCV000120227 RCV000567138 RCV000550035 RCV000766552
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	SNV Germline	Chr15:90784953	Pathogenic/Likely pathogenic	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA274025	rs_587779884	18 SubmittersRCV000115298 RCV000169191 RCV001016333
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	SNV Germline	Chr15:90749542	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA249282	rs_200690226	12 SubmittersRCV000203080 RCV000462198 RCV000561733 RCV000656777
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)	SNV Germline	Chr15:90794347	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287093	rs_587779885	7 SubmittersRCV000115304 RCV001275698 RCV002255286
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)	SNV Germline	Chr15:90803559	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287097	rs_145027663	4 SubmittersRCV000115306 RCV000542140 RCV000567551
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)	SNV Germline	Chr15:90803589	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA287100	rs_140387675	11 SubmittersRCV000115307 RCV000475273 RCV000566047 RCV001818265
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)	SNV Germline	Chr15:90804233	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA287106	rs_1801256	15 SubmittersRCV000115309 RCV000168286 RCV000564629 RCV000726338
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)	SNV Germline	Chr15:90804359	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287115	rs_587779888	6 SubmittersRCV000115312 RCV000699350 RCV001021051
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg)	SNV Germline	Chr15:90811222	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287118	rs_587779889	4 SubmittersRCV000115313 RCV000628664 RCV000561783
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)	SNV Germline	Chr15:90811264	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287121	rs_527291754	4 SubmittersRCV000115314 RCV000559638 RCV001021470
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)	SNV Germline	Chr15:90811321	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome See cases	Criteria Provided Conflicting Classifications	CA287124	rs_150631940	8 SubmittersRCV000115315 RCV000536540 RCV001021594 RCV002251984
NM_000057.4(BLM):c.403G>T (p.Ala135Ser)	SNV Germline	Chr15:90749671	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287127	rs_373832397	5 SubmittersRCV000115316 RCV000465705 RCV000566329
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)	SNV Germline	Chr15:90749964	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287145	rs_201845548	5 SubmittersRCV000115322 RCV000326657 RCV001025851
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	SNV Germline	Chr15:90754819	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer	Criteria Provided Conflicting Classifications	CA157436	rs_146504061	15 SubmittersRCV000120244 RCV000226028 RCV000575545 RCV000656781 RCV003492470
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	SNV Germline	Chr15:90766979	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer BLM-related disorder	Criteria Provided Conflicting Classifications	CA157379	rs_142551229	13 SubmittersRCV000120225 RCV000469034 RCV000566842 RCV000731068 RCV003492521 RCV003905143
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	SNV Germline	Chr15:90769196	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Bloom syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA157382	rs_55880859	10 SubmittersRCV000120226 RCV000568596 RCV000628631 RCV001030455
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys)	SNV Germline	Chr15:90804245	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Bloom syndrome	Criteria Provided Conflicting Classifications	CA157397	rs_28385142	6 SubmittersRCV000120231 RCV000569262 RCV000727387 RCV001036176
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro)	SNV Germline	Chr15:90815127	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA157406	rs_587778104	4 SubmittersRCV000120234 RCV000806844 RCV004019670
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	SNV Germline	Chr15:90749446	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Microcephaly Hereditary breast ovarian cancer syndrome Condition: not provided BLM-related disorder	Criteria Provided Conflicting Classifications	CA157427	rs_138542210	11 SubmittersRCV000120241 RCV000330317 RCV000562376 RCV001252853 RCV001030679 RCV001800407 RCV003915190
NM_000057.4(BLM):c.847A>G (p.Thr283Ala)	SNV Germline	Chr15:90751834	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA157433	rs_149598003	5 SubmittersRCV000120243 RCV000540157 RCV000569169
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala)	SNV Germline	Chr15:90761114	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA157442	rs_587778108	4 SubmittersRCV000120246 RCV000689681 RCV001012917
NM_000057.4(BLM):c.2160C>T (p.Ile720=)	SNV Germline	Chr15:90765381	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Bloom syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA289696	rs_28385028	9 SubmittersRCV000123845 RCV000568428 RCV000226091 RCV003237733
NM_000057.4(BLM):c.2268A>G (p.Lys756=)	SNV Germline	Chr15:90766984	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA289699	rs_146013879	13 SubmittersRCV000123846 RCV000226761 RCV000565012 RCV001705903
NM_000057.4(BLM):c.3359-13A>G	SNV Germline	Chr15:90803508	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA289706	rs_200250931	5 SubmittersRCV000123850 RCV000272706 RCV002258806
NM_000057.4(BLM):c.3798T>G (p.Val1266=)	SNV Germline	Chr15:90809183	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA289707	rs_138831180	12 SubmittersRCV000123851 RCV001080664 RCV000573700 RCV000725494
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)	SNV Germline	Chr15:90803577	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA270823	rs_587783037	7 SubmittersRCV000144576 RCV001020241 RCV003441755
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys)	SNV Germline	Chr15:90811279	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA273735	rs_730880251	7 SubmittersRCV000157586 RCV000561536 RCV003221828
NM_000057.4(BLM):c.645C>T (p.Ser215=)	SNV Germline	Chr15:90749913	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA298496	rs_56218710	6 SubmittersRCV000159831 RCV000548769 RCV000572632
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)	SNV Germline	Chr15:90760731	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA298490	rs_730881428	3 SubmittersRCV000544365 RCV002381525
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)	SNV Germline	Chr15:90763098	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274191	rs_747281324	6 SubmittersRCV000169338 RCV001014085 RCV001310295
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)	SNV Germline	Chr15:90749473	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA235943	rs_746195311	10 SubmittersRCV000171242 RCV000673383 RCV001014270 RCV002298500
NM_000057.4(BLM):c.3558+1G>T	SNV Germline	Chr15:90803721	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349695	rs_148969222	11 SubmittersRCV000205550 RCV000572028 RCV001723775
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	SNV Germline	Chr15:90747435	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BLM-related disorder	Criteria Provided Conflicting Classifications	CA7738228	rs_148545569	9 SubmittersRCV000227410 RCV000572998 RCV000857675 RCV003226261 RCV003407767
NM_000057.4(BLM):c.451A>G (p.Ile151Val)	SNV Germline	Chr15:90749719	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA7738293	rs_780472557	5 SubmittersRCV000231372 RCV001022623 RCV001818556
NM_000057.4(BLM):c.1086C>T (p.Asp362=)	SNV Germline	Chr15:90754937	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Bloom syndrome not specified	Criteria Provided Conflicting Classifications	CA7738419	rs_375632163	6 SubmittersRCV000352401 RCV000573154 RCV001085620 RCV001818552
NM_000057.4(BLM):c.1467G>A (p.Arg489=)	SNV Germline	Chr15:90760840	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7738539	rs_56257041	8 SubmittersRCV000228175 RCV000562540 RCV000732826 RCV001818553
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)	SNV Germline	Chr15:90760842	Conflicting classifications of pathogenicity	Bloom syndrome not specified	Criteria Provided Conflicting Classifications	CA10583273	rs_878853553	3 SubmittersRCV000232143 RCV002247670
NM_000057.4(BLM):c.2838A>G (p.Thr946=)	SNV Germline	Chr15:90790663	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Bloom syndrome BLM-related disorder	Criteria Provided Conflicting Classifications	CA7738883	rs_200850440	7 SubmittersRCV000271833 RCV000572201 RCV001085829 RCV003897510
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	SNV Germline	Chr15:90794188	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BLM-related disorder	Criteria Provided Conflicting Classifications	CA7738930	rs_145022945	12 SubmittersRCV000228961 RCV000563912 RCV001538791 RCV001804962 RCV003907844
NM_000057.4(BLM):c.3210+4A>G	SNV Germline	Chr15:90794361	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided BLM-related disorder	Criteria Provided Conflicting Classifications	CA7738952	rs_776621429	9 SubmittersRCV000234518 RCV001019264 RCV002478830 RCV003897511
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn)	SNV Germline	Chr15:90798217	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738972	rs_771767745	4 SubmittersRCV000228367 RCV001019350 RCV003237782
NM_000057.4(BLM):c.3751+9A>C	SNV Germline	Chr15:90804368	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome	Criteria Provided Conflicting Classifications	CA7739095	rs_774368488	3 SubmittersRCV000730297 RCV001081399
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	SNV Germline	Chr15:90809234	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Bloom syndrome not specified	Criteria Provided Conflicting Classifications	CA7739121	rs_140524886	14 SubmittersRCV000574031 RCV000732455 RCV001081770 RCV001194358
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)	SNV Germline	Chr15:90811209	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BLM-related disorder	Criteria Provided Conflicting Classifications	CA7739153	rs_28377085	9 SubmittersRCV000227610 RCV000562616 RCV000732825 RCV001818555 RCV003937880
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)	SNV Germline	Chr15:90769546	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Bloom syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA7738795	rs_201427280	6 SubmittersRCV000264848 RCV000565904 RCV000543633 RCV003153549
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)	SNV Germline	Chr15:90790744	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Bloom syndrome not specified BLM-related disorder	Criteria Provided Conflicting Classifications	CA7738896	rs_181161119	10 SubmittersRCV000322377 RCV000566804 RCV001079416 RCV001820844 RCV003910047
NM_000057.4(BLM):c.2739C>T (p.Leu913=)	SNV Germline	Chr15:90784997	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7738864	rs_759223856	8 SubmittersRCV000401930 RCV000572257 RCV001194359 RCV001531211
NM_000057.4(BLM):c.3751+10C>T	SNV Germline	Chr15:90804369	Conflicting classifications of pathogenicity	Bloom syndrome not specified	Criteria Provided Conflicting Classifications	CA7739096	rs_199685140	4 SubmittersRCV000269179 RCV000780963
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)	SNV Germline	Chr15:90815276	Conflicting classifications of pathogenicity	Bloom syndrome	Criteria Provided Conflicting Classifications	CA10647527	rs_886051553	3 SubmittersRCV000372001
NM_000057.4(BLM):c.2T>C (p.Met1Thr)	SNV Germline	Chr15:90747394	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041764	rs_1057516593	2 SubmittersRCV000412038 RCV003168589
NM_000057.4(BLM):c.98+1G>A	SNV Germline	Chr15:90747491	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA7738232	rs_750293380	5 SubmittersRCV000409688 RCV002374613
NM_000057.4(BLM):c.98+1G>T	SNV Germline	Chr15:90747491	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7738233	rs_750293380	7 SubmittersRCV000410622 RCV001019785 RCV003477906
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)	SNV Germline	Chr15:90760657	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16041769	rs_1057516964	5 SubmittersRCV000410691
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter)	SNV Unknown	Chr15:90785079	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter	CA16041776	rs_1057516700	1 SubmittersRCV000410779
NM_000057.4(BLM):c.2824-2A>T	SNV Germline	Chr15:90790647	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA7738882	rs_745538883	4 SubmittersRCV000411706 RCV002436232
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter)	SNV Unknown	Chr15:90803562	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter	CA16041779	rs_1057516774	1 SubmittersRCV000412132
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter)	SNV Unknown	Chr15:90809240	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter	CA16041782	rs_1057516728	1 SubmittersRCV000409908
NM_000057.4(BLM):c.3875-2A>G	SNV Germline	Chr15:90811203	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7739151	rs_150421256	7 SubmittersRCV000409613 RCV001021334 RCV001090940
NM_000057.4(BLM):c.807C>T (p.Ser269=)	SNV Germline	Chr15:90751794	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738370	rs_147850738	5 SubmittersRCV000470963 RCV000564852 RCV002475901
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)	SNV Germline	Chr15:90782885	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738831	rs_146723808	5 SubmittersRCV000469889 RCV000570597 RCV003105908
NM_000057.4(BLM):c.2898C>G (p.Leu966=)	SNV Germline	Chr15:90790723	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738894	rs_201220226	9 SubmittersRCV000564251 RCV000989394 RCV003392289
NM_000057.4(BLM):c.543C>A (p.Ser181Arg)	SNV Germline	Chr15:90749811	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA7738307	rs_761288442	4 SubmittersRCV000472724 RCV001024105 RCV003492048
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)	SNV Germline	Chr15:90760892	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7738551	rs_192491153	5 SubmittersRCV000468134 RCV000574215 RCV001821235 RCV003477944
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys)	SNV Germline	Chr15:90761025	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738568	rs_746571244	2 SubmittersRCV000462089 RCV002393086
NM_000057.4(BLM):c.2691C>T (p.Ser897=)	SNV Germline	Chr15:90784949	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738858	rs_756155242	4 SubmittersRCV000460536 RCV002256283
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)	SNV Germline	Chr15:90790700	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA7738888	rs_762354041	3 SubmittersRCV000469284 RCV002436391
NM_000057.4(BLM):c.805A>G (p.Ser269Gly)	SNV Germline	Chr15:90751792	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738369	rs_141411463	3 SubmittersRCV000460269 RCV001027122
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys)	SNV Germline	Chr15:90751874	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7738384	rs_775005766	4 SubmittersRCV000460689 RCV001018434 RCV001821232 RCV003477941
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)	SNV Germline	Chr15:90769463	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7738775	rs_145029382	6 SubmittersRCV000477499 RCV002451078 RCV003441864 RCV003151059
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)	SNV Germline	Chr15:90803578	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7739029	rs_771776126	4 SubmittersRCV000475513 RCV000708668
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)	SNV Germline	Chr15:90809213	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BLM-related disorder	Criteria Provided Conflicting Classifications	CA7739117	rs_369383272	9 SubmittersRCV000458403 RCV000572740 RCV001579981 RCV001821231 RCV003912796
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg)	SNV Germline	Chr15:90811389	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16614823	rs_1060500646	4 SubmittersRCV000472912 RCV001021769
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)	SNV Germline	Chr15:90754895	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Bloom syndrome Hereditary breast ovarian cancer syndrome not specified BLM-related disorder	Criteria Provided Conflicting Classifications	CA7738414	rs_184657475	7 SubmittersRCV000566370 RCV000590533 RCV001080152 RCV001030683 RCV003151068 RCV003899947
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile)	SNV Germline	Chr15:90761013	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738567	rs_758161226	3 SubmittersRCV000472965 RCV002402236
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val)	SNV Germline	Chr15:90790838	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738907	rs_201829983	4 SubmittersRCV000465861 RCV001018059 RCV003477943
NM_000057.4(BLM):c.2490G>A (p.Thr830=)	SNV Germline	Chr15:90769521	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA7738790	rs_765233032	5 SubmittersRCV000533547 RCV001015688 RCV000500937
NM_000057.4(BLM):c.2308-2A>G	SNV Germline	Chr15:90769131	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts	CA393845015	rs_1248548542	3 SubmittersRCV000518951 RCV001015149 RCV002525121
NM_000057.4(BLM):c.261G>A (p.Lys87=)	SNV Germline	Chr15:90749529	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738268	rs_372668612	5 SubmittersRCV001084544 RCV000576007 RCV000728499
NM_000057.4(BLM):c.918A>G (p.Glu306=)	SNV Germline	Chr15:90751905	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738389	rs_760806762	4 SubmittersRCV000554754 RCV002256335
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)	SNV Germline	Chr15:90763016	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided BLM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7738620	rs_373525781	13 SubmittersRCV000545144 RCV000576060 RCV001311063 RCV003409758
NM_000057.4(BLM):c.2161G>A (p.Val721Ile)	SNV Germline	Chr15:90765382	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738669	rs_559554788	3 SubmittersRCV000527567 RCV001014494
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu)	SNV Germline	Chr15:90809254	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA274727854	rs_1031421025	4 SubmittersRCV001021321 RCV000534742 RCV001821469 RCV002280123
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)	SNV Germline	Chr15:90815138	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7739200	rs_61754135	5 SubmittersRCV000528102 RCV000573986
NM_000057.4(BLM):c.646G>A (p.Glu216Lys)	SNV Germline	Chr15:90749914	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738320	rs_779934502	2 SubmittersRCV000527173 RCV001025303
NM_000057.4(BLM):c.934T>G (p.Ser312Ala)	SNV Germline	Chr15:90751921	Conflicting classifications of pathogenicity	Bloom syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738392	rs_372454889	6 SubmittersRCV000543241 RCV001800731 RCV001019197
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)	SNV Germline	Chr15:90760863	Conflicting classifications of pathogenicity	Bloom syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738543	rs_368547042	7 SubmittersRCV000550747 RCV001788276 RCV001011867
NM_000057.4(BLM):c.2662T>C (p.Tyr888His)	SNV Germline	Chr15:90782928	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738836	rs_758696992	5 SubmittersRCV000560159 RCV002257782 RCV003478098
NM_000057.4(BLM):c.3019+7T>C	SNV Germline	Chr15:90790851	Conflicting classifications of pathogenicity	Bloom syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738910	rs_761087545	2 SubmittersRCV000559098 RCV003478100
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)	SNV Germline	Chr15:90794209	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738935	rs_369629509	3 SubmittersRCV000543071 RCV001018398
NM_000057.4(BLM):c.808G>A (p.Glu270Lys)	SNV Germline	Chr15:90751795	Conflicting classifications of pathogenicity	Bloom syndrome Condition: not provided Hereditary cancer-predisposing syndrome BLM-related disorder	Criteria Provided Conflicting Classifications	CA7738371	rs_762053925	6 SubmittersRCV000541320 RCV000588275 RCV000570422 RCV003392360
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)	SNV Germline	Chr15:90767009	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Bloom syndrome	Criteria Provided Conflicting Classifications	CA7738710	rs_191789336	8 SubmittersRCV000526205 RCV000563745 RCV001030454 RCV001082616
NM_000057.4(BLM):c.99-9A>T	SNV Germline	Chr15:90749358	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA658658310	rs_1419730289	2 SubmittersRCV000546577 RCV002256336
NM_000057.4(BLM):c.186T>G (p.Asn62Lys)	SNV Germline	Chr15:90749454	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738255	rs_146735953	2 SubmittersRCV000546483 RCV001013411
NM_000057.4(BLM):c.842A>G (p.His281Arg)	SNV Germline	Chr15:90751829	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA393841709	rs_202042636	5 SubmittersRCV000529811 RCV001017747 RCV003478103
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile)	SNV Germline	Chr15:90760854	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA393843153	rs_751600686	4 SubmittersRCV000535993 RCV002395272
NM_000057.4(BLM):c.1785A>T (p.Ser595=)	SNV Germline	Chr15:90761158	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA7738587	rs_79871543	5 SubmittersRCV000528528 RCV001013171 RCV001269111
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)	SNV Germline	Chr15:90761198	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738589	rs_770255643	3 SubmittersRCV000553465 RCV001013273
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)	SNV Germline	Chr15:90790664	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Ovarian cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA7738884	rs_189925962	8 SubmittersRCV000541196 RCV001016575 RCV001030457 RCV001194357 RCV003153670 RCV003478099
NM_000057.4(BLM):c.4077-5T>C	SNV Germline	Chr15:90815097	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7739195	rs_200653178	5 SubmittersRCV000539615 RCV001021816 RCV001702499
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)	SNV Germline	Chr15:90815245	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7739215	rs_557057587	6 SubmittersRCV000543803 RCV001022081 RCV002476078
NM_000057.4(BLM):c.437A>T (p.Asp146Val)	SNV Germline	Chr15:90749705	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications	CA274728070	rs_902876126	3 SubmittersRCV000564374 RCV000791833
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn)	SNV Germline	Chr15:90760159	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA7738464	rs_772176483	3 SubmittersRCV000571670 RCV001058471 RCV003153744
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys)	SNV Germline	Chr15:90760254	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738481	rs_538728271	4 SubmittersRCV000565340 RCV000628690 RCV001800791
NM_000057.4(BLM):c.1209G>C (p.Gln403His)	SNV Germline	Chr15:90760268	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications	CA393842555	rs_1555419741	2 SubmittersRCV000562284 RCV001313055
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg)	SNV Germline	Chr15:90811397	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome BLM-related disorder	Criteria Provided Conflicting Classifications	CA274729005	rs_945181516	4 SubmittersRCV000568146 RCV001227793 RCV003392414
NM_000057.4(BLM):c.3813G>A (p.Leu1271=)	SNV Germline	Chr15:90809198	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome Condition: not provided BLM-related disorder	Criteria Provided Conflicting Classifications	CA7739114	rs_376082823	4 SubmittersRCV000564769 RCV000628715 RCV001805194 RCV003905491
NM_000057.4(BLM):c.248A>G (p.Gln83Arg)	SNV Germline	Chr15:90749516	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome BLM-related disorder	Criteria Provided Conflicting Classifications	CA274727856	rs_377192173	3 SubmittersRCV000628616 RCV002431843 RCV003432654
NM_000057.4(BLM):c.635C>T (p.Ser212Phe)	SNV Germline	Chr15:90749903	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738318	rs_777938065	4 SubmittersRCV000628652 RCV001025173
NM_000057.4(BLM):c.722G>A (p.Gly241Asp)	SNV Germline	Chr15:90749990	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738336	rs_200897029	4 SubmittersRCV000628619 RCV001026183 RCV002275094
NM_000057.4(BLM):c.960-4G>A	SNV Germline	Chr15:90754807	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome BLM-related disorder	Criteria Provided Conflicting Classifications	CA658798430	rs_1555418976	3 SubmittersRCV000628697 RCV001019548 RCV003420088
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)	SNV Germline	Chr15:90782827	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7738822	rs_758692622	5 SubmittersRCV000628681 RCV001015940 RCV003478339
NM_000057.4(BLM):c.3559-1G>A	SNV Germline	Chr15:90804166	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter	CA393847872	rs_1555424368	2 SubmittersRCV000628634
NM_000057.4(BLM):c.1121A>G (p.His374Arg)	SNV Germline	Chr15:90760180	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738468	rs_776225502	3 SubmittersRCV000628642 RCV002438627
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)	SNV Germline	Chr15:90760847	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA7738540	rs_764182382	4 SubmittersRCV000628667 RCV001011740 RCV003317305
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln)	SNV Germline	Chr15:90769465	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA7738777	rs_763827222	4 SubmittersRCV001015520 RCV000628656 RCV003153768
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)	SNV Germline	Chr15:90803667	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA7739047	rs_777492549	6 SubmittersRCV000628682 RCV001020473 RCV001800832 RCV003153769
NM_000057.4(BLM):c.245A>G (p.Asn82Ser)	SNV Germline	Chr15:90749513	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA393839943	rs_1555418292	2 SubmittersRCV000628614 RCV002448923
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu)	SNV Germline	Chr15:90760155	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA7738462	rs_552913880	3 SubmittersRCV000628658 RCV004025326
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)	SNV Germline	Chr15:90811352	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA7739175	rs_201149857	3 SubmittersRCV000628645 RCV001021691 RCV001030462
NM_000057.4(BLM):c.1883-2A>G	SNV Unknown	Chr15:90762964	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1555420142	1 SubmittersRCV000668047
NM_000057.4(BLM):c.3874+2T>C	SNV Germline	Chr15:90809261	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555424890	3 SubmittersRCV000665122
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter)	SNV Unknown	Chr15:90811267	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1555425074	1 SubmittersRCV000664850
NM_000057.4(BLM):c.1087+1G>A	SNV Germline	Chr15:90754939	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1179486581	3 SubmittersRCV000669379
NM_000057.4(BLM):c.2407-1G>A	SNV Unknown	Chr15:90769437	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1555420871	1 SubmittersRCV000667408
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)	SNV Germline	Chr15:90794310	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_746218707	3 SubmittersRCV000664476 RCV002325337
NM_000057.4(BLM):c.1A>C (p.Met1Leu)	SNV Unknown	Chr15:90747393	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1215497457	1 SubmittersRCV000674307
NM_000057.4(BLM):c.1088-1G>A	SNV Germline	Chr15:90760146	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555419696	3 SubmittersRCV000669294
NM_000057.4(BLM):c.1220+1G>A	SNV Unknown	Chr15:90760280	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1555419748	1 SubmittersRCV000668749
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	SNV Germline	Chr15:90760674	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_754203833	6 SubmittersRCV000671593 RCV001010863 RCV002508246
NM_000057.4(BLM):c.2555+1G>T	SNV Unknown	Chr15:90769587	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1555420917	1 SubmittersRCV000673166
NM_000057.4(BLM):c.99-1G>C	SNV Unknown	Chr15:90749366	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_897262346	1 SubmittersRCV000668031
NM_000057.4(BLM):c.1221-2A>C	SNV Germline	Chr15:90760592	Conflicting classifications of pathogenicity	Bloom syndrome	Criteria Provided Conflicting Classifications		rs_1555419779	3 SubmittersRCV000670242
NM_000057.4(BLM):c.2824-1G>C	SNV Germline	Chr15:90790648	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555423062	2 SubmittersRCV000666970
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)	SNV Germline	Chr15:90803601	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_770311534	4 SubmittersRCV000681632 RCV001020308
NM_000057.4(BLM):c.137A>G (p.Asn46Ser)	SNV Germline	Chr15:90749405	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1237910576	4 SubmittersRCV000699899 RCV001030678 RCV002386236
NM_000057.4(BLM):c.280C>T (p.Pro94Ser)	SNV Germline	Chr15:90749548	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1417089374	2 SubmittersRCV000706284 RCV002440544
NM_000057.4(BLM):c.302G>C (p.Arg101Thr)	SNV Germline	Chr15:90749570	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications		rs_781707344	4 SubmittersRCV000695665 RCV001018185 RCV002249411
NM_000057.4(BLM):c.835G>T (p.Glu279Ter)	SNV Germline	Chr15:90751822	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1567036566	1 SubmittersRCV000706208
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)	SNV Germline	Chr15:90803718	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_750532596	7 SubmittersRCV000687324 RCV001020601 RCV002293470
NM_000057.4(BLM):c.379A>G (p.Thr127Ala)	SNV Germline	Chr15:90749647	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_528474170	2 SubmittersRCV000695100 RCV002352155
NM_000057.4(BLM):c.1156A>G (p.Ile386Val)	SNV Germline	Chr15:90760215	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_757636363	3 SubmittersRCV000687587 RCV001010017
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)	SNV Germline	Chr15:90760863	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_368547042	4 SubmittersRCV000695709 RCV001011868
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)	SNV Germline	Chr15:90749663	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_775197136	6 SubmittersRCV000705324 RCV001021526 RCV001579393
NM_000057.4(BLM):c.657T>G (p.Asp219Glu)	SNV Germline	Chr15:90749925	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1447056195	3 SubmittersRCV000686276 RCV002360716
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly)	SNV Germline	Chr15:90760692	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1567040910	3 SubmittersRCV000686664 RCV001010964
NM_000057.4(BLM):c.376C>T (p.Pro126Ser)	SNV Germline	Chr15:90749644	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_587778106	3 SubmittersRCV000690709 RCV001021089
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)	SNV Germline	Chr15:90760835	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1477193473	1 SubmittersRCV000700601
NM_000057.4(BLM):c.2662+2T>C	SNV Germline	Chr15:90782930	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1567052324	4 SubmittersRCV000700888 RCV004026532
NM_000057.4(BLM):c.888T>C (p.Tyr296=)	SNV Germline	Chr15:90751875	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_139277089	3 SubmittersRCV000708672 RCV001457740
NM_000057.4(BLM):c.955C>T (p.Leu319Phe)	SNV Germline	Chr15:90751942	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_1567036793	4 SubmittersRCV000708673 RCV001205386
NM_000057.4(BLM):c.1216A>G (p.Ile406Val)	SNV Germline	Chr15:90760275	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Hereditary cancer	Criteria Provided Conflicting Classifications		rs_769498398	3 SubmittersRCV000709359 RCV002352228 RCV003492149
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)	SNV Germline	Chr15:90766974	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1400231534	3 SubmittersRCV000709362 RCV004026782
NM_000057.4(BLM):c.2556-8T>C	SNV Germline	Chr15:90782814	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Hereditary cancer	Criteria Provided Conflicting Classifications		rs_1567052156	3 SubmittersRCV000709365 RCV002256491 RCV003492150
NM_000057.4(BLM):c.2663-2A>G	SNV Unknown	Chr15:90784919	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1567053170	1 SubmittersRCV000709368
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)	SNV Germline	Chr15:90798319	Conflicting classifications of pathogenicity	Bloom syndrome	Criteria Provided Conflicting Classifications		rs_1567060305	2 SubmittersRCV000709370
NM_000057.4(BLM):c.3237C>T (p.Asp1079=)	SNV Germline	Chr15:90798216	Conflicting classifications of pathogenicity	Condition: not provided Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_148237075	4 SubmittersRCV000732828 RCV001078554 RCV001019348
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)	SNV Germline	Chr15:90798246	Conflicting classifications of pathogenicity	Bloom syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1396484162	5 SubmittersRCV000768157 RCV001816825 RCV003279048 RCV003884722
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	SNV Germline	Chr15:90760149	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1567040469	5 SubmittersRCV000779836 RCV002442599
NM_000057.4(BLM):c.256G>C (p.Val86Leu)	SNV Germline	Chr15:90749524	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1596218041	3 SubmittersRCV000820301 RCV002427050
NM_000057.4(BLM):c.335T>C (p.Leu112Ser)	SNV Germline	Chr15:90749603	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1038386076	4 SubmittersRCV000801940 RCV002325542 RCV003478501
NM_000057.4(BLM):c.353T>C (p.Val118Ala)	SNV Germline	Chr15:90749621	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_768933887	3 SubmittersRCV000798838 RCV002458446
NM_000057.4(BLM):c.394C>T (p.Arg132Trp)	SNV Germline	Chr15:90749662	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_765089689	4 SubmittersRCV000800577 RCV001021498 RCV003478499
NM_000057.4(BLM):c.820A>G (p.Asn274Asp)	SNV Germline	Chr15:90751807	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_750551907	5 SubmittersRCV000793913 RCV002424800 RCV003226978
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu)	SNV Germline	Chr15:90754866	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1596223833	3 SubmittersRCV000823664 RCV002336724
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)	SNV Germline	Chr15:90760279	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1350192744	3 SubmittersRCV000811037 RCV002363095
NM_000057.4(BLM):c.1288T>C (p.Tyr430His)	SNV Germline	Chr15:90760661	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1314473930	3 SubmittersRCV000804510 RCV002381763
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn)	SNV Germline	Chr15:90760788	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_368967327	3 SubmittersRCV000803622 RCV002388501
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)	SNV Germline	Chr15:90760919	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1596230118	1 SubmittersRCV000823524
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys)	SNV Germline	Chr15:90798272	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_912777535	3 SubmittersRCV000804819 RCV002325561
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)	SNV Germline	Chr15:90803658	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1596267627	4 SubmittersRCV000809430 RCV002255532 RCV003311895
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr)	SNV Germline	Chr15:90811288	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1596273579	2 SubmittersRCV000818087 RCV002352442
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)	SNV Germline	Chr15:90811315	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_190652985	3 SubmittersRCV000796643 RCV001021582
NM_000057.4(BLM):c.960-1G>A	SNV Germline	Chr15:90754810	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1596223715	3 SubmittersRCV000797339
NM_000057.4(BLM):c.98+1G>C	SNV Germline	Chr15:90747491	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_750293380	8 SubmittersRCV000826134 RCV001019784 RCV002462193
NM_000057.4(BLM):c.2809C>T (p.Gln937Ter)	SNV Germline	Chr15:90785067	Pathogenic	Bloom syndrome	No Assertion Criteria Provided		rs_1596252279	1 SubmittersRCV001007657
NM_000057.4(BLM):c.2193+1G>A	SNV Germline	Chr15:90765415	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_865866188	4 SubmittersRCV000855680 RCV001014688
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)	SNV Germline	Chr15:90811263	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_756451802	4 SubmittersRCV000871824 RCV002372466
NM_000057.4(BLM):c.800-4G>A	SNV Germline	Chr15:90751783	Conflicting classifications of pathogenicity	Bloom syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1338362749	2 SubmittersRCV001498854 RCV003478570
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala)	SNV Germline	Chr15:90760790	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1596229797	3 SubmittersRCV000989386 RCV002391048
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)	SNV Germline	Chr15:90763088	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1596232266	2 SubmittersRCV000989387 RCV002416269
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)	SNV Germline	Chr15:90794311	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_367543029	5 SubmittersRCV000989396 RCV002320201 RCV003478602
NM_000057.4(BLM):c.329A>G (p.Asp110Gly)	SNV Germline	Chr15:90749597	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1292239409	4 SubmittersRCV001019773 RCV001341837 RCV001805974
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)	SNV Germline	Chr15:90749932	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_774075577	4 SubmittersRCV001025499 RCV001418845
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)	SNV Germline	Chr15:90749938	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_918752814	3 SubmittersRCV001025562 RCV002550917
NM_000057.4(BLM):c.829G>T (p.Glu277Ter)	SNV Germline	Chr15:90751816	Pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1596221020	2 SubmittersRCV001027379 RCV001387853
NM_000057.4(BLM):c.972C>T (p.Asp324=)	SNV Germline	Chr15:90754823	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Bloom syndrome	Criteria Provided Conflicting Classifications		rs_769094708	3 SubmittersRCV001019684 RCV001819731 RCV003505160
NM_000057.4(BLM):c.991A>G (p.Lys331Glu)	SNV Germline	Chr15:90754842	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_1596223773	2 SubmittersRCV001019888 RCV002550852
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)	SNV Germline	Chr15:90761074	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1356090839	4 SubmittersRCV001012779 RCV001194354
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)	SNV Germline	Chr15:90761157	Pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_138943954	4 SubmittersRCV001013170 RCV001832335
NM_000057.4(BLM):c.2205A>T (p.Thr735=)	SNV Germline	Chr15:90766921	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_757134420	2 SubmittersRCV001014721 RCV003769468
NM_000057.4(BLM):c.2211G>C (p.Leu737=)	SNV Germline	Chr15:90766927	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_933356579	3 SubmittersRCV001014805 RCV001120216
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn)	SNV Germline	Chr15:90769175	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome Ovarian cancer	Criteria Provided Conflicting Classifications		rs_779746222	4 SubmittersRCV001015260 RCV001275697 RCV003153885
NM_000057.4(BLM):c.2661A>G (p.Pro887=)	SNV Germline	Chr15:90782927	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome not specified BLM-related disorder	Criteria Provided Conflicting Classifications		rs_753160480	4 SubmittersRCV001016147 RCV001040335 RCV001819728 RCV003953429
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn)	SNV Germline	Chr15:90811276	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_779179608	3 SubmittersRCV001021489 RCV001273626
NM_000057.4(BLM):c.4024T>C (p.Ser1342Pro)	SNV Germline	Chr15:90811354	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_1596273687	2 SubmittersRCV001021698 RCV001313764
NM_000057.4(BLM):c.2075-1G>A	SNV Germline	Chr15:90765295	Likely pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1231598990	2 SubmittersRCV001014335 RCV001068255
NM_000057.4(BLM):c.2308-5C>T	SNV Germline	Chr15:90769128	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications		rs_957805754	3 SubmittersRCV001015151 RCV001276026
NM_000057.4(BLM):c.2556-2A>G	SNV Germline	Chr15:90782820	Likely pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1596250255	2 SubmittersRCV001015947 RCV001065154
NM_000057.4(BLM):c.3751+2T>C	SNV Germline	Chr15:90804361	Likely pathogenic	Hereditary breast ovarian cancer syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1897239414	2 SubmittersRCV001030460 RCV002552042
NM_000057.4(BLM):c.145G>A (p.Val49Ile)	SNV Germline	Chr15:90749413	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_558379347	3 SubmittersRCV001071066 RCV002393341
NM_000057.4(BLM):c.934T>A (p.Ser312Thr)	SNV Germline	Chr15:90751921	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_372454889	2 SubmittersRCV001044862 RCV002372786
NM_000057.4(BLM):c.1057C>G (p.Leu353Val)	SNV Germline	Chr15:90754908	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1895778737	3 SubmittersRCV001061235 RCV002411571
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser)	SNV Germline	Chr15:90760273	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_752223894	2 SubmittersRCV001047878 RCV002355026
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter)	SNV Germline	Chr15:90769440	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1896235438	2 SubmittersRCV001059204 RCV002451246
NM_000057.4(BLM):c.2427A>G (p.Gln809=)	SNV Germline	Chr15:90769458	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1896236372	2 SubmittersRCV001053214 RCV002451220
NM_000057.4(BLM):c.2556G>T (p.Val852=)	SNV Germline	Chr15:90782822	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications		rs_1896650229	4 SubmittersRCV001054976 RCV002436616 RCV001819780
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)	SNV Germline	Chr15:90785059	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1896712163	3 SubmittersRCV001055201 RCV003363083
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter)	SNV Germline	Chr15:90794234	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1896974524	1 SubmittersRCV001050406
NM_000057.4(BLM):c.960-2A>C	SNV Germline	Chr15:90754809	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1286600850	2 SubmittersRCV001057874
NM_000057.4(BLM):c.799+1G>T	SNV Germline	Chr15:90750068	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1895641581	3 SubmittersRCV001071167 RCV002418559
NM_000057.4(BLM):c.2824-2A>C	SNV Germline	Chr15:90790647	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_745538883	1 SubmittersRCV001065618
NM_000057.4(BLM):c.3020-15C>T	SNV Germline	Chr15:90794152	Conflicting classifications of pathogenicity	Bloom syndrome	Criteria Provided Conflicting Classifications		rs_200210516	2 SubmittersRCV001115612
NM_000057.4(BLM):c.382G>A (p.Val128Ile)	SNV Germline	Chr15:90749650	Conflicting classifications of pathogenicity	Bloom syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1269873284	3 SubmittersRCV001221344 RCV001819914 RCV002356941
NM_000057.4(BLM):c.760G>T (p.Glu254Ter)	SNV Germline	Chr15:90750028	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_181892828	1 SubmittersRCV001218699
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)	SNV Germline	Chr15:90784960	Conflicting classifications of pathogenicity	Bloom syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_758311406	4 SubmittersRCV001224607 RCV002225809 RCV002429952
NM_000057.4(BLM):c.800-2A>G	SNV Germline	Chr15:90751785	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1895690125	3 SubmittersRCV001224424
NM_000057.4(BLM):c.1220+3A>G	SNV Germline	Chr15:90760282	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1429490877	2 SubmittersRCV001220808 RCV002365996
NM_000057.4(BLM):c.2556-1G>T	SNV Germline	Chr15:90782821	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1896650174	2 SubmittersRCV001221740
NM_000057.4(BLM):c.3558+2T>C	SNV Germline	Chr15:90803722	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1897222054	2 SubmittersRCV001219429 RCV003284070
NM_000057.4(BLM):c.521A>G (p.Gln174Arg)	SNV Germline	Chr15:90749789	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1895622909	2 SubmittersRCV001233307 RCV002339641
NM_000057.4(BLM):c.865A>G (p.Ile289Val)	SNV Germline	Chr15:90751852	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1895693953	2 SubmittersRCV001227052 RCV004032591
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter)	SNV Germline	Chr15:90765318	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1896092339	1 SubmittersRCV001234159
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)	SNV Germline	Chr15:90766937	Pathogenic/Likely pathogenic	Bloom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1896146578	2 SubmittersRCV001238842 RCV003227015
NM_000057.4(BLM):c.397G>A (p.Asp133Asn)	SNV Germline	Chr15:90749665	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_762621627	3 SubmittersRCV001247344 RCV002357051
NM_000057.4(BLM):c.497C>G (p.Ser166Ter)	SNV Germline	Chr15:90749765	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_896357448	1 SubmittersRCV001241670
NM_000057.4(BLM):c.883G>A (p.Asp295Asn)	SNV Germline	Chr15:90751870	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_146096923	3 SubmittersRCV001244495 RCV002375294
NM_000057.4(BLM):c.3307G>A (p.Val1103Ile)	SNV Germline	Chr15:90798286	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_748331529	3 SubmittersRCV001242527 RCV002322151
NM_000057.4(BLM):c.960-1G>T	SNV Germline	Chr15:90754810	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1596223715	3 SubmittersRCV001236569 RCV004033316
NM_000057.4(BLM):c.3020-258A>G	SNV Germline	Chr15:90793909	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1301751251	3 SubmittersRCV001256002
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter)	SNV Germline	Chr15:90803541	Pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1897212605	2 SubmittersRCV001256003
NM_000057.4(BLM):c.3299T>G (p.Ile1100Arg)	SNV Germline	Chr15:90798278	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_755282763	3 SubmittersRCV001297400 RCV003166662
NM_000057.4(BLM):c.615G>T (p.Lys205Asn)	SNV Germline	Chr15:90749883	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_28903082	2 SubmittersRCV001326664 RCV004035212
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)	SNV Germline	Chr15:90769438	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_148394770	3 SubmittersRCV001321100 RCV002447359
NM_000057.4(BLM):c.4102T>A (p.Ser1368Thr)	SNV Germline	Chr15:90815127	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_587778104	3 SubmittersRCV001316835 RCV002322228
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn)	SNV Germline	Chr15:90815149	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_139115275	4 SubmittersRCV001312252 RCV002327690 RCV002469372
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg)	SNV Germline	Chr15:90761217	Conflicting classifications of pathogenicity	Bloom syndrome Ovarian cancer	Criteria Provided Conflicting Classifications		rs_1895978967	2 SubmittersRCV001349441 RCV003154008
NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala)	SNV Germline	Chr15:90803697	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1344786638	2 SubmittersRCV001341350 RCV002341700
NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg)	SNV Germline	Chr15:90815257	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1897532698	3 SubmittersRCV001344164 RCV002329323
NM_000057.4(BLM):c.454A>G (p.Asn152Asp)	SNV Germline	Chr15:90749722	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2151147384	2 SubmittersRCV001364803 RCV004036924
NM_000057.4(BLM):c.1883-1G>A	SNV Germline	Chr15:90762965	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_772230310	1 SubmittersRCV001379778
NM_000057.4(BLM):c.2662+2T>G	SNV Germline	Chr15:90782930	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1567052324	2 SubmittersRCV001377320
NM_000057.4(BLM):c.2663-1G>C	SNV Germline	Chr15:90784920	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1444037196	2 SubmittersRCV001377176
NM_000057.4(BLM):c.3875-1G>A	SNV Germline	Chr15:90811204	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2151199690	2 SubmittersRCV001377094 RCV002357280
NM_000057.4(BLM):c.589C>T (p.Gln197Ter)	SNV Germline	Chr15:90749857	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151147666	1 SubmittersRCV001386785
NM_000057.4(BLM):c.689G>A (p.Trp230Ter)	SNV Germline	Chr15:90749957	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151147939	1 SubmittersRCV001386838
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)	SNV Germline	Chr15:90760865	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2151158332	2 SubmittersRCV001380476
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter)	SNV Germline	Chr15:90761001	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_367543038	1 SubmittersRCV001389745
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)	SNV Germline	Chr15:90762972	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2151160492	2 SubmittersRCV001386984
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)	SNV Germline	Chr15:90767008	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151164019	1 SubmittersRCV001385069
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)	SNV Germline	Chr15:90769441	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1412341951	2 SubmittersRCV001388693
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter)	SNV Germline	Chr15:90782858	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1896651394	1 SubmittersRCV001380595
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter)	SNV Germline	Chr15:90798260	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1472603091	2 SubmittersRCV001381688 RCV002447509
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter)	SNV Germline	Chr15:90804242	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1897234496	1 SubmittersRCV001383124
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)	SNV Germline	Chr15:90804254	Pathogenic/Likely pathogenic	Bloom syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2151194897	2 SubmittersRCV001381701 RCV003478807
NM_000057.4(BLM):c.852G>A (p.Glu284=)	SNV Germline	Chr15:90751839	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications		rs_2151149592	3 SubmittersRCV001428162 RCV003355470 RCV001820123
NM_000057.4(BLM):c.227C>T (p.Pro76Leu)	SNV Germline	Chr15:90749495	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_774515970	2 SubmittersRCV001484883 RCV002449283
NM_000057.4(BLM):c.1674A>T (p.Ile558=)	SNV Germline	Chr15:90761047	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_770573584	3 SubmittersRCV001559215 RCV003298929
NM_000057.4(BLM):c.3019+11C>A	SNV Germline	Chr15:90790855	Conflicting classifications of pathogenicity	Bloom syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_776916080	2 SubmittersRCV001761938 RCV003237582
NM_000057.4(BLM):c.83C>G (p.Ser28Ter)	SNV Germline	Chr15:90747475	Pathogenic/Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2151145090	3 SubmittersRCV001782196 RCV002440874
NM_000057.4(BLM):c.540A>C (p.Val180=)	SNV Germline	Chr15:90749808	Conflicting classifications of pathogenicity	not specified Bloom syndrome	Criteria Provided Conflicting Classifications		rs_763776756	2 SubmittersRCV001820287 RCV002077301
NM_000057.4(BLM):c.2148G>A (p.Leu716=)	SNV Germline	Chr15:90765369	Conflicting classifications of pathogenicity	not specified Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2151162471	3 SubmittersRCV001822545 RCV003614090 RCV002425091
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter)	SNV Germline	Chr15:90760862	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151158321	1 SubmittersRCV001944778
NM_000057.4(BLM):c.742A>G (p.Ile248Val)	SNV Germline	Chr15:90750010	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_558524280	2 SubmittersRCV001913746 RCV002386710
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)	SNV Germline	Chr15:90804286	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1897236255	2 SubmittersRCV002021875
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter)	SNV Germline	Chr15:90784983	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1456964727	1 SubmittersRCV001941705
NM_000057.4(BLM):c.3271C>A (p.His1091Asn)	SNV Germline	Chr15:90798250	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_766959096	2 SubmittersRCV001972917 RCV002442961
NM_000057.4(BLM):c.2406+5A>G	SNV Germline	Chr15:90769236	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_763104913	2 SubmittersRCV001907445 RCV002449493
NM_000057.4(BLM):c.1154C>A (p.Thr385Asn)	SNV Germline	Chr15:90760213	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_202009716	2 SubmittersRCV001976316 RCV004042292
NM_000057.4(BLM):c.2307+2T>G	SNV Germline	Chr15:90767025	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151164052	1 SubmittersRCV002017409
NM_000057.4(BLM):c.583A>T (p.Lys195Ter)	SNV Germline	Chr15:90749851	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151147654	1 SubmittersRCV001905472
NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp)	SNV Germline	Chr15:90811391	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_891751726	2 SubmittersRCV002028880 RCV004046122
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter)	SNV Germline	Chr15:90785052	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151179928	1 SubmittersRCV001874514
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)	SNV Germline	Chr15:90782861	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1060503989	2 SubmittersRCV001903058
NM_000057.4(BLM):c.74T>G (p.Leu25Ter)	SNV Germline	Chr15:90747466	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1895534883	2 SubmittersRCV001878750
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)	SNV Germline	Chr15:90809248	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2151198389	2 SubmittersRCV001916169
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter)	SNV Germline	Chr15:90765388	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151162501	1 SubmittersRCV001916223
NM_000057.4(BLM):c.3875-2A>T	SNV Germline	Chr15:90811203	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_150421256	1 SubmittersRCV002011275
NM_000057.4(BLM):c.2131G>A (p.Val711Ile)	SNV Germline	Chr15:90765352	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2151162449	2 SubmittersRCV001934363 RCV002423105
NM_000057.4(BLM):c.43C>A (p.Arg15Ser)	SNV Germline	Chr15:90747435	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_148545569	2 SubmittersRCV001990389 RCV003303521
NM_000057.4(BLM):c.3751+1G>A	SNV Germline	Chr15:90804360	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1897239335	1 SubmittersRCV002012726
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter)	SNV Germline	Chr15:90761105	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151158869	1 SubmittersRCV001893678
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)	SNV Germline	Chr15:90809249	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151198391	1 SubmittersRCV001946986
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter)	SNV Germline	Chr15:90811357	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151199939	1 SubmittersRCV001943383
NM_000057.4(BLM):c.2823+2T>A	SNV Germline	Chr15:90785083	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1896712920	3 SubmittersRCV002014207
NM_000057.4(BLM):c.919G>T (p.Glu307Ter)	SNV Germline	Chr15:90751906	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_766386787	1 SubmittersRCV002039725
NM_000057.4(BLM):c.960-3C>T	SNV Germline	Chr15:90754808	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_878962653	2 SubmittersRCV001961672 RCV003303530
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu)	SNV Germline	Chr15:90811278	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome Ovarian cancer	Criteria Provided Conflicting Classifications		rs_375896520	3 SubmittersRCV001899742 RCV002359300 RCV003154205
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter)	SNV Germline	Chr15:90769229	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151165848	1 SubmittersRCV001959206
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter)	SNV Germline	Chr15:90809143	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_2151198266	1 SubmittersRCV001981961
NM_000057.4(BLM):c.1882+1G>C	SNV Germline	Chr15:90761256	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_757841012	1 SubmittersRCV002010406
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter)	SNV Germline	Chr15:90794292	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter		rs_1188753950	1 SubmittersRCV001949630
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)	SNV Germline	Chr15:90760610	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_887921909	2 SubmittersRCV001982147
NM_000057.4(BLM):c.3491A>G (p.Asn1164Ser)	SNV Germline	Chr15:90803653	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_751855048	2 SubmittersRCV001938055 RCV002458779
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter)	SNV Germline	Chr15:90754905	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_369583279	2 SubmittersRCV001886188 RCV003382681
NM_000057.4(BLM):c.2622G>A (p.Val874=)	SNV Germline	Chr15:90782888	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_760261440	2 SubmittersRCV002093064 RCV003365689
NM_000057.4(BLM):c.2583T>C (p.Asn861=)	SNV Germline	Chr15:90782849	Conflicting classifications of pathogenicity	Bloom syndrome	Criteria Provided Conflicting Classifications		rs_1896651230	2 SubmittersRCV002217159
NM_000057.4(BLM):c.2663-5G>C	SNV Germline	Chr15:90784916	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1161787867	2 SubmittersRCV002110894 RCV003308000
NM_000057.4(BLM):c.3495C>G (p.Asp1165Glu)	SNV Germline	Chr15:90803657	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_767536788	2 SubmittersRCV002127859 RCV004046539
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)	SNV Germline	Chr15:90790680	Likely pathogenic	Bloom syndrome	No Assertion Criteria Provided			1 SubmittersRCV002291105
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)	SNV Germline	Chr15:90803672	Pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002459215 RCV003102387
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)	SNV Germline	Chr15:90798292	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002454718 RCV003099391
NM_000057.4(BLM):c.962C>T (p.Thr321Met)	SNV Germline	Chr15:90754813	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003094845 RCV002385347
NM_000057.4(BLM):c.856G>A (p.Val286Ile)	SNV Germline	Chr15:90751843	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002447883 RCV003099975
NM_000057.4(BLM):c.980C>T (p.Thr327Ile)	SNV Germline	Chr15:90754831	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002376807 RCV003505248
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)	SNV Germline	Chr15:90760663	Pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002383303 RCV003774239
NM_000057.4(BLM):c.1049T>C (p.Met350Thr)	SNV Germline	Chr15:90754900	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002400952 RCV003774413
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)	SNV Germline	Chr15:90761238	Pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002414987 RCV003100896
NM_000057.4(BLM):c.2555+1G>A	SNV Germline	Chr15:90769587	Likely pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002433332 RCV003101966
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)	SNV Germline	Chr15:90766925	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003098715 RCV002425827
NM_000057.4(BLM):c.254G>A (p.Arg85Lys)	SNV Germline	Chr15:90749522	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002434950 RCV003614180
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)	SNV Germline	Chr15:90794265	Pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003058483
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)	SNV Germline	Chr15:90766924	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003081168
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)	SNV Germline	Chr15:90749729	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003093333 RCV003161737
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)	SNV Germline	Chr15:90749914	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002588044
NM_000057.4(BLM):c.1064C>A (p.Pro355Gln)	SNV Germline	Chr15:90754915	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002623977 RCV004070671
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)	SNV Germline	Chr15:90809224	Pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003118324 RCV003358132
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)	SNV Germline	Chr15:90765362	Conflicting classifications of pathogenicity	Bloom syndrome Condition: not provided Hereditary cancer	Criteria Provided Conflicting Classifications			3 SubmittersRCV002600102 RCV003477010 RCV003492771
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)	SNV Germline	Chr15:90747420	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002635373
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)	SNV Germline	Chr15:90811321	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002706733
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)	SNV Germline	Chr15:90790832	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002810370
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)	SNV Germline	Chr15:90790748	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002824690
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)	SNV Germline	Chr15:90804219	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002856366
NM_000057.4(BLM):c.3874+1G>A	SNV Germline	Chr15:90809260	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002876562
NM_000057.4(BLM):c.99-1G>T	SNV Germline	Chr15:90749366	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002913779
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)	SNV Germline	Chr15:90762977	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002867696
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)	SNV Germline	Chr15:90785049	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002903884
NM_000057.4(BLM):c.3358+1G>A	SNV Germline	Chr15:90798338	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002885290 RCV004065024
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)	SNV Germline	Chr15:90790751	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002962911
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)	SNV Germline	Chr15:90763103	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003011020
NM_000057.4(BLM):c.1220+2T>C	SNV Germline	Chr15:90760281	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003019439
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)	SNV Germline	Chr15:90761205	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003022513
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)	SNV Germline	Chr15:90760254	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003023866
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)	SNV Germline	Chr15:90760976	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003046822
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)	SNV Germline	Chr15:90760152	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003047188
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)	SNV Germline	Chr15:90804236	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003057527
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)	SNV Germline	Chr15:90760910	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003044385
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)	SNV Germline	Chr15:90761205	Pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003341921 RCV003614225
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)	SNV Germline	Chr15:90760888	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003358438 RCV003475569
NM_000057.4(BLM):c.959+2T>C	SNV Unknown	Chr15:90751948	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474355
NM_000057.4(BLM):c.2407-2A>G	SNV Unknown	Chr15:90769436	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474357
NM_000057.4(BLM):c.3359-2A>G	SNV Germline	Chr15:90803519	Likely pathogenic	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003474359 RCV004364805
NM_000057.4(BLM):c.1220+1G>T	SNV Unknown	Chr15:90760280	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474361
NM_000057.4(BLM):c.3359-1G>A	SNV Unknown	Chr15:90803520	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474366
NM_000057.4(BLM):c.3358+1G>T	SNV Unknown	Chr15:90798338	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474369
NM_000057.4(BLM):c.1087+1G>T	SNV Unknown	Chr15:90754939	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474371
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)	SNV Germline	Chr15:90760823	Pathogenic/Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003474374
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)	SNV Unknown	Chr15:90749686	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474377
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)	SNV Unknown	Chr15:90782908	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474380
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)	SNV Unknown	Chr15:90811305	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474381
NM_000057.4(BLM):c.3210+1G>A	SNV Unknown	Chr15:90794358	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003474382
NM_000057.4(BLM):c.1882+2T>C	SNV Germline	Chr15:90761257	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003474384
NM_000057.4(BLM):c.2307+1G>A	SNV Germline	Chr15:90767024	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003505777
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)	SNV Germline	Chr15:90751801	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003506577
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)	SNV Germline	Chr15:90784922	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003504948
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)	SNV Germline	Chr15:90761178	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003613979
NM_000057.4(BLM):c.952T>C (p.Cys318Arg)	SNV Germline	Chr15:90751939	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003614909 RCV004371878
NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr)	SNV Germline	Chr15:90811309	Conflicting classifications of pathogenicity	Bloom syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003614823 RCV004371862
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)	SNV Germline	Chr15:90809164	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003614965
NM_000057.4(BLM):c.3211-2A>G	SNV Germline	Chr15:90798188	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003614896
NM_000057.4(BLM):c.799+1G>A	SNV Germline	Chr15:90750068	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003615218
NM_000057.4(BLM):c.1087+2T>C	SNV Germline	Chr15:90754940	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003615260
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)	SNV Germline	Chr15:90754902	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003615386
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)	SNV Germline	Chr15:90749825	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003813719
NM_000057.4(BLM):c.1220+2T>G	SNV Germline	Chr15:90760281	Likely pathogenic	Bloom syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003871592
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)	SNV Germline	Chr15:90809169	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003870002
NM_000057.4(BLM):c.3559-3A>G	SNV Germline	Chr15:90804164	Pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004555424
NM_000057.4(BLM):c.960-2A>G	SNV Unknown	Chr15:90754809	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004575411
NM_000057.4(BLM):c.2663-1G>A	SNV Unknown	Chr15:90784920	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004575412
NM_000057.4(BLM):c.550C>T (p.Gln184Ter)	SNV Unknown	Chr15:90749818	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004575413
NM_000057.4(BLM):c.3427G>T (p.Glu1143Ter)	SNV Unknown	Chr15:90803589	Likely pathogenic	Bloom syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004575414

NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)

SNV
Germline

Chr15:90769553

Conflicting classifications of pathogenicity

Bloom syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_767086502

2 SubmittersRCV003474363 RCV003479527

NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe)

SNV
Unknown

Chr15:90794254

Pathogenic

Bloom syndrome

No Assertion Criteria Provided

CA253496

rs_137853153

1 SubmittersRCV000005790

NM_000057.4(BLM):c.2074+1G>T

SNV
Germline

Chr15:90763158

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344501

rs_367543036

3 SubmittersRCV000034892

NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)

SNV
Germline

Chr15:90765319

Pathogenic

Bloom syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344502

rs_367543028

8 SubmittersRCV000034893 RCV000317685 RCV001014425

NM_000057.4(BLM):c.2406+2T>G

SNV
Germline

Chr15:90769233

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_367543016

2 SubmittersRCV001806715

NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)

SNV
Germline

Chr15:90782909

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344509

rs_367543039

5 SubmittersRCV001231693 RCV002426543

NM_000057.4(BLM):c.311C>A (p.Ser104Ter)

SNV
Germline

Chr15:90749579

Pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_367543030

2 SubmittersRCV002238626

NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)

SNV
Germline

Chr15:90794311

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298493

rs_367543029

9 SubmittersRCV000034904 RCV000569697

NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter)

SNV
Germline

Chr15:90798257

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_367543017

1 SubmittersRCV001941615

NM_000057.4(BLM):c.3558+1G>A

SNV
Germline

Chr15:90803721

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_148969222

1 SubmittersRCV003041245

NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)

SNV
Germline

Chr15:90809232

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA344538

rs_367543031

6 SubmittersRCV000034915 RCV002354185

NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)

SNV
Germline

Chr15:90760156

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287049

rs_571152089

6 SubmittersRCV000115278 RCV000477302 RCV000574582

NM_000057.4(BLM):c.11T>C (p.Val4Ala)

SNV
Germline

Chr15:90747403

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BLM-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA287052

rs_144706057

18 SubmittersRCV000115279 RCV000210906 RCV000562058 RCV000656774 RCV003935097 RCV003492469

NM_000057.4(BLM):c.1315A>G (p.Met439Val)

SNV
Germline

Chr15:90760688

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA287058

rs_201231857

11 SubmittersRCV000115281 RCV000234473 RCV000574443 RCV001818261

NM_000057.4(BLM):c.1348A>G (p.Met450Val)

SNV
Germline

Chr15:90760721

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287061

rs_200385935

4 SubmittersRCV000115282 RCV001222033 RCV002381418

NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)

SNV
Germline

Chr15:90760974

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA247014

rs_35224686

11 SubmittersRCV000465434 RCV000575229 RCV000724734 RCV001818262

NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)

SNV
Germline

Chr15:90761015

Pathogenic

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome
BLM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA270826

rs_200389141

28 SubmittersRCV000115284 RCV000144577 RCV000574676 RCV003952547

NM_000057.4(BLM):c.191A>T (p.Asp64Val)

SNV
Germline

Chr15:90749459

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA243084

rs_140382474

13 SubmittersRCV000460513 RCV000574815 RCV000656775 RCV001800401

NM_000057.4(BLM):c.1928G>A (p.Arg643His)

SNV
Germline

Chr15:90763011

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA152050

rs_12720097

20 SubmittersRCV000116502 RCV000211548 RCV000565415 RCV000857778 RCV003891606

NM_000057.4(BLM):c.2074+5G>A

SNV
Germline

Chr15:90763162

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287064

rs_587779880

3 SubmittersRCV000115287 RCV000812341 RCV002415592

NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)

SNV
Germline

Chr15:90765340

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA274808

rs_146077918

20 SubmittersRCV000115288 RCV000172805 RCV000563887 RCV000857591 RCV003952548

NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)

SNV
Germline

Chr15:90769158

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Bloom syndrome

Criteria Provided
Conflicting Classifications

CA287068

rs_139610577

11 SubmittersRCV000115291 RCV000562292 RCV000656782 RCV001080005

NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)

SNV
Germline

Chr15:90769187

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Bloom syndrome
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA287071

rs_149754073

8 SubmittersRCV000115292 RCV000564057 RCV001082972 RCV001818263 RCV003407494

NM_000057.4(BLM):c.2475G>A (p.Pro825=)

SNV
Germline

Chr15:90769506

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287077

rs_147587050

6 SubmittersRCV000115294 RCV000542801 RCV000573420

NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)

SNV
Germline

Chr15:90782904

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Bloom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA157385

rs_201770808

8 SubmittersRCV000120227 RCV000567138 RCV000550035 RCV000766552

NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)

SNV
Germline

Chr15:90784953

Pathogenic/Likely pathogenic

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA274025

rs_587779884

18 SubmittersRCV000115298 RCV000169191 RCV001016333

NM_000057.4(BLM):c.274A>G (p.Asn92Asp)

SNV
Germline

Chr15:90749542

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA249282

rs_200690226

12 SubmittersRCV000203080 RCV000462198 RCV000561733 RCV000656777

NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)

SNV
Germline

Chr15:90794347

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287093

rs_587779885

7 SubmittersRCV000115304 RCV001275698 RCV002255286

NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)

SNV
Germline

Chr15:90803559

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287097

rs_145027663

4 SubmittersRCV000115306 RCV000542140 RCV000567551

NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)

SNV
Germline

Chr15:90803589

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA287100

rs_140387675

11 SubmittersRCV000115307 RCV000475273 RCV000566047 RCV001818265

NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)

SNV
Germline

Chr15:90804233

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA287106

rs_1801256

15 SubmittersRCV000115309 RCV000168286 RCV000564629 RCV000726338

NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)

SNV
Germline

Chr15:90804359

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287115

rs_587779888

6 SubmittersRCV000115312 RCV000699350 RCV001021051

NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg)

SNV
Germline

Chr15:90811222

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287118

rs_587779889

4 SubmittersRCV000115313 RCV000628664 RCV000561783

NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)

SNV
Germline

Chr15:90811264

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287121

rs_527291754

4 SubmittersRCV000115314 RCV000559638 RCV001021470

NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)

SNV
Germline

Chr15:90811321

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome
See cases

Criteria Provided
Conflicting Classifications

CA287124

rs_150631940

8 SubmittersRCV000115315 RCV000536540 RCV001021594 RCV002251984

NM_000057.4(BLM):c.403G>T (p.Ala135Ser)

SNV
Germline

Chr15:90749671

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287127

rs_373832397

5 SubmittersRCV000115316 RCV000465705 RCV000566329

NM_000057.4(BLM):c.696C>A (p.Ser232Arg)

SNV
Germline

Chr15:90749964

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287145

rs_201845548

5 SubmittersRCV000115322 RCV000326657 RCV001025851

NM_000057.4(BLM):c.968A>G (p.Lys323Arg)

SNV
Germline

Chr15:90754819

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA157436

rs_146504061

15 SubmittersRCV000120244 RCV000226028 RCV000575545 RCV000656781 RCV003492470

NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)

SNV
Germline

Chr15:90766979

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA157379

rs_142551229

13 SubmittersRCV000120225 RCV000469034 RCV000566842 RCV000731068 RCV003492521 RCV003905143

NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)

SNV
Germline

Chr15:90769196

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Bloom syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA157382

rs_55880859

10 SubmittersRCV000120226 RCV000568596 RCV000628631 RCV001030455

NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys)

SNV
Germline

Chr15:90804245

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Bloom syndrome

Criteria Provided
Conflicting Classifications

CA157397

rs_28385142

6 SubmittersRCV000120231 RCV000569262 RCV000727387 RCV001036176

NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro)

SNV
Germline

Chr15:90815127

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA157406

rs_587778104

4 SubmittersRCV000120234 RCV000806844 RCV004019670

NM_000057.4(BLM):c.178T>A (p.Leu60Ile)

SNV
Germline

Chr15:90749446

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Microcephaly
Hereditary breast ovarian cancer syndrome
Condition: not provided
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA157427

rs_138542210

11 SubmittersRCV000120241 RCV000330317 RCV000562376 RCV001252853 RCV001030679 RCV001800407 RCV003915190

NM_000057.4(BLM):c.847A>G (p.Thr283Ala)

SNV
Germline

Chr15:90751834

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA157433

rs_149598003

5 SubmittersRCV000120243 RCV000540157 RCV000569169

NM_000057.4(BLM):c.1741A>G (p.Thr581Ala)

SNV
Germline

Chr15:90761114

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA157442

rs_587778108

4 SubmittersRCV000120246 RCV000689681 RCV001012917

NM_000057.4(BLM):c.2160C>T (p.Ile720=)

SNV
Germline

Chr15:90765381

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Bloom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289696

rs_28385028

9 SubmittersRCV000123845 RCV000568428 RCV000226091 RCV003237733

NM_000057.4(BLM):c.2268A>G (p.Lys756=)

SNV
Germline

Chr15:90766984

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289699

rs_146013879

13 SubmittersRCV000123846 RCV000226761 RCV000565012 RCV001705903

NM_000057.4(BLM):c.3359-13A>G

SNV
Germline

Chr15:90803508

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA289706

rs_200250931

5 SubmittersRCV000123850 RCV000272706 RCV002258806

NM_000057.4(BLM):c.3798T>G (p.Val1266=)

SNV
Germline

Chr15:90809183

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289707

rs_138831180

12 SubmittersRCV000123851 RCV001080664 RCV000573700 RCV000725494

NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)

SNV
Germline

Chr15:90803577

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA270823

rs_587783037

7 SubmittersRCV000144576 RCV001020241 RCV003441755

NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys)

SNV
Germline

Chr15:90811279

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA273735

rs_730880251

7 SubmittersRCV000157586 RCV000561536 RCV003221828

NM_000057.4(BLM):c.645C>T (p.Ser215=)

SNV
Germline

Chr15:90749913

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA298496

rs_56218710

6 SubmittersRCV000159831 RCV000548769 RCV000572632

NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)

SNV
Germline

Chr15:90760731

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298490

rs_730881428

3 SubmittersRCV000544365 RCV002381525

NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)

SNV
Germline

Chr15:90763098

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274191

rs_747281324

6 SubmittersRCV000169338 RCV001014085 RCV001310295

NM_000057.4(BLM):c.205G>A (p.Glu69Lys)

SNV
Germline

Chr15:90749473

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA235943

rs_746195311

10 SubmittersRCV000171242 RCV000673383 RCV001014270 RCV002298500

NM_000057.4(BLM):c.3558+1G>T

SNV
Germline

Chr15:90803721

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349695

rs_148969222

11 SubmittersRCV000205550 RCV000572028 RCV001723775

NM_000057.4(BLM):c.43C>T (p.Arg15Cys)

SNV
Germline

Chr15:90747435

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7738228

rs_148545569

9 SubmittersRCV000227410 RCV000572998 RCV000857675 RCV003226261 RCV003407767

NM_000057.4(BLM):c.451A>G (p.Ile151Val)

SNV
Germline

Chr15:90749719

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7738293

rs_780472557

5 SubmittersRCV000231372 RCV001022623 RCV001818556

NM_000057.4(BLM):c.1086C>T (p.Asp362=)

SNV
Germline

Chr15:90754937

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Bloom syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7738419

rs_375632163

6 SubmittersRCV000352401 RCV000573154 RCV001085620 RCV001818552

NM_000057.4(BLM):c.1467G>A (p.Arg489=)

SNV
Germline

Chr15:90760840

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7738539

rs_56257041

8 SubmittersRCV000228175 RCV000562540 RCV000732826 RCV001818553

NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)

SNV
Germline

Chr15:90760842

Conflicting classifications of pathogenicity

Bloom syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10583273

rs_878853553

3 SubmittersRCV000232143 RCV002247670

NM_000057.4(BLM):c.2838A>G (p.Thr946=)

SNV
Germline

Chr15:90790663

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Bloom syndrome
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7738883

rs_200850440

7 SubmittersRCV000271833 RCV000572201 RCV001085829 RCV003897510

NM_000057.4(BLM):c.3041A>G (p.His1014Arg)

SNV
Germline

Chr15:90794188

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7738930

rs_145022945

12 SubmittersRCV000228961 RCV000563912 RCV001538791 RCV001804962 RCV003907844

NM_000057.4(BLM):c.3210+4A>G

SNV
Germline

Chr15:90794361

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7738952

rs_776621429

9 SubmittersRCV000234518 RCV001019264 RCV002478830 RCV003897511

NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn)

SNV
Germline

Chr15:90798217

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738972

rs_771767745

4 SubmittersRCV000228367 RCV001019350 RCV003237782

NM_000057.4(BLM):c.3751+9A>C

SNV
Germline

Chr15:90804368

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome

Criteria Provided
Conflicting Classifications

CA7739095

rs_774368488

3 SubmittersRCV000730297 RCV001081399

NM_000057.4(BLM):c.3849G>A (p.Gln1283=)

SNV
Germline

Chr15:90809234

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Bloom syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7739121

rs_140524886

14 SubmittersRCV000574031 RCV000732455 RCV001081770 RCV001194358

NM_000057.4(BLM):c.3879A>G (p.Glu1293=)

SNV
Germline

Chr15:90811209

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7739153

rs_28377085

9 SubmittersRCV000227610 RCV000562616 RCV000732825 RCV001818555 RCV003937880

NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)

SNV
Germline

Chr15:90769546

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Bloom syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7738795

rs_201427280

6 SubmittersRCV000264848 RCV000565904 RCV000543633 RCV003153549

NM_000057.4(BLM):c.2919C>T (p.Tyr973=)

SNV
Germline

Chr15:90790744

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Bloom syndrome
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7738896

rs_181161119

10 SubmittersRCV000322377 RCV000566804 RCV001079416 RCV001820844 RCV003910047

NM_000057.4(BLM):c.2739C>T (p.Leu913=)

SNV
Germline

Chr15:90784997

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738864

rs_759223856

8 SubmittersRCV000401930 RCV000572257 RCV001194359 RCV001531211

NM_000057.4(BLM):c.3751+10C>T

SNV
Germline

Chr15:90804369

Conflicting classifications of pathogenicity

Bloom syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7739096

rs_199685140

4 SubmittersRCV000269179 RCV000780963

NM_000057.4(BLM):c.4251A>C (p.Ser1417=)

SNV
Germline

Chr15:90815276

Conflicting classifications of pathogenicity

Bloom syndrome

Criteria Provided
Conflicting Classifications

CA10647527

rs_886051553

3 SubmittersRCV000372001

NM_000057.4(BLM):c.2T>C (p.Met1Thr)

SNV
Germline

Chr15:90747394

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041764

rs_1057516593

2 SubmittersRCV000412038 RCV003168589

NM_000057.4(BLM):c.98+1G>A

SNV
Germline

Chr15:90747491

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7738232

rs_750293380

5 SubmittersRCV000409688 RCV002374613

NM_000057.4(BLM):c.98+1G>T

SNV
Germline

Chr15:90747491

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7738233

rs_750293380

7 SubmittersRCV000410622 RCV001019785 RCV003477906

NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)

SNV
Germline

Chr15:90760657

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041769

rs_1057516964

5 SubmittersRCV000410691

NM_000057.4(BLM):c.2821C>T (p.Gln941Ter)

SNV
Unknown

Chr15:90785079

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

CA16041776

rs_1057516700

1 SubmittersRCV000410779

NM_000057.4(BLM):c.2824-2A>T

SNV
Germline

Chr15:90790647

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7738882

rs_745538883

4 SubmittersRCV000411706 RCV002436232

NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter)

SNV
Unknown

Chr15:90803562

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

CA16041779

rs_1057516774

1 SubmittersRCV000412132

NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter)

SNV
Unknown

Chr15:90809240

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

CA16041782

rs_1057516728

1 SubmittersRCV000409908

NM_000057.4(BLM):c.3875-2A>G

SNV
Germline

Chr15:90811203

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7739151

rs_150421256

7 SubmittersRCV000409613 RCV001021334 RCV001090940

NM_000057.4(BLM):c.807C>T (p.Ser269=)

SNV
Germline

Chr15:90751794

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738370

rs_147850738

5 SubmittersRCV000470963 RCV000564852 RCV002475901

NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)

SNV
Germline

Chr15:90782885

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738831

rs_146723808

5 SubmittersRCV000469889 RCV000570597 RCV003105908

NM_000057.4(BLM):c.2898C>G (p.Leu966=)

SNV
Germline

Chr15:90790723

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738894

rs_201220226

9 SubmittersRCV000564251 RCV000989394 RCV003392289

NM_000057.4(BLM):c.543C>A (p.Ser181Arg)

SNV
Germline

Chr15:90749811

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7738307

rs_761288442

4 SubmittersRCV000472724 RCV001024105 RCV003492048

NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)

SNV
Germline

Chr15:90760892

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738551

rs_192491153

5 SubmittersRCV000468134 RCV000574215 RCV001821235 RCV003477944

NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys)

SNV
Germline

Chr15:90761025

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738568

rs_746571244

2 SubmittersRCV000462089 RCV002393086

NM_000057.4(BLM):c.2691C>T (p.Ser897=)

SNV
Germline

Chr15:90784949

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738858

rs_756155242

4 SubmittersRCV000460536 RCV002256283

NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)

SNV
Germline

Chr15:90790700

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7738888

rs_762354041

3 SubmittersRCV000469284 RCV002436391

NM_000057.4(BLM):c.805A>G (p.Ser269Gly)

SNV
Germline

Chr15:90751792

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738369

rs_141411463

3 SubmittersRCV000460269 RCV001027122

NM_000057.4(BLM):c.887A>G (p.Tyr296Cys)

SNV
Germline

Chr15:90751874

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738384

rs_775005766

4 SubmittersRCV000460689 RCV001018434 RCV001821232 RCV003477941

NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)

SNV
Germline

Chr15:90769463

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7738775

rs_145029382

6 SubmittersRCV000477499 RCV002451078 RCV003441864 RCV003151059

NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)

SNV
Germline

Chr15:90803578

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7739029

rs_771776126

4 SubmittersRCV000475513 RCV000708668

NM_000057.4(BLM):c.3828G>A (p.Ala1276=)

SNV
Germline

Chr15:90809213

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7739117

rs_369383272

9 SubmittersRCV000458403 RCV000572740 RCV001579981 RCV001821231 RCV003912796

NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg)

SNV
Germline

Chr15:90811389

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614823

rs_1060500646

4 SubmittersRCV000472912 RCV001021769

NM_000057.4(BLM):c.1044G>A (p.Met348Ile)

SNV
Germline

Chr15:90754895

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Bloom syndrome
Hereditary breast ovarian cancer syndrome
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7738414

rs_184657475

7 SubmittersRCV000566370 RCV000590533 RCV001080152 RCV001030683 RCV003151068 RCV003899947

NM_000057.4(BLM):c.1640C>T (p.Thr547Ile)

SNV
Germline

Chr15:90761013

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738567

rs_758161226

3 SubmittersRCV000472965 RCV002402236

NM_000057.4(BLM):c.3013A>G (p.Ile1005Val)

SNV
Germline

Chr15:90790838

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738907

rs_201829983

4 SubmittersRCV000465861 RCV001018059 RCV003477943

NM_000057.4(BLM):c.2490G>A (p.Thr830=)

SNV
Germline

Chr15:90769521

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7738790

rs_765233032

5 SubmittersRCV000533547 RCV001015688 RCV000500937

NM_000057.4(BLM):c.2308-2A>G

SNV
Germline

Chr15:90769131

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393845015

rs_1248548542

3 SubmittersRCV000518951 RCV001015149 RCV002525121

NM_000057.4(BLM):c.261G>A (p.Lys87=)

SNV
Germline

Chr15:90749529

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738268

rs_372668612

5 SubmittersRCV001084544 RCV000576007 RCV000728499

NM_000057.4(BLM):c.918A>G (p.Glu306=)

SNV
Germline

Chr15:90751905

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738389

rs_760806762

4 SubmittersRCV000554754 RCV002256335

NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)

SNV
Germline

Chr15:90763016

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BLM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7738620

rs_373525781

13 SubmittersRCV000545144 RCV000576060 RCV001311063 RCV003409758

NM_000057.4(BLM):c.2161G>A (p.Val721Ile)

SNV
Germline

Chr15:90765382

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738669

rs_559554788

3 SubmittersRCV000527567 RCV001014494

NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu)

SNV
Germline

Chr15:90809254

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA274727854

rs_1031421025

4 SubmittersRCV001021321 RCV000534742 RCV001821469 RCV002280123

NM_000057.4(BLM):c.4113G>A (p.Thr1371=)

SNV
Germline

Chr15:90815138

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7739200

rs_61754135

5 SubmittersRCV000528102 RCV000573986

NM_000057.4(BLM):c.646G>A (p.Glu216Lys)

SNV
Germline

Chr15:90749914

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738320

rs_779934502

2 SubmittersRCV000527173 RCV001025303

NM_000057.4(BLM):c.934T>G (p.Ser312Ala)

SNV
Germline

Chr15:90751921

Conflicting classifications of pathogenicity

Bloom syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738392

rs_372454889

6 SubmittersRCV000543241 RCV001800731 RCV001019197

NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)

SNV
Germline

Chr15:90760863

Conflicting classifications of pathogenicity

Bloom syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738543

rs_368547042

7 SubmittersRCV000550747 RCV001788276 RCV001011867

NM_000057.4(BLM):c.2662T>C (p.Tyr888His)

SNV
Germline

Chr15:90782928

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738836

rs_758696992

5 SubmittersRCV000560159 RCV002257782 RCV003478098

NM_000057.4(BLM):c.3019+7T>C

SNV
Germline

Chr15:90790851

Conflicting classifications of pathogenicity

Bloom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738910

rs_761087545

2 SubmittersRCV000559098 RCV003478100

NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)

SNV
Germline

Chr15:90794209

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738935

rs_369629509

3 SubmittersRCV000543071 RCV001018398

NM_000057.4(BLM):c.808G>A (p.Glu270Lys)

SNV
Germline

Chr15:90751795

Conflicting classifications of pathogenicity

Bloom syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7738371

rs_762053925

6 SubmittersRCV000541320 RCV000588275 RCV000570422 RCV003392360

NM_000057.4(BLM):c.2293G>A (p.Val765Ile)

SNV
Germline

Chr15:90767009

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

CA7738710

rs_191789336

8 SubmittersRCV000526205 RCV000563745 RCV001030454 RCV001082616

NM_000057.4(BLM):c.99-9A>T

SNV
Germline

Chr15:90749358

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658658310

rs_1419730289

2 SubmittersRCV000546577 RCV002256336

NM_000057.4(BLM):c.186T>G (p.Asn62Lys)

SNV
Germline

Chr15:90749454

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738255

rs_146735953

2 SubmittersRCV000546483 RCV001013411

NM_000057.4(BLM):c.842A>G (p.His281Arg)

SNV
Germline

Chr15:90751829

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA393841709

rs_202042636

5 SubmittersRCV000529811 RCV001017747 RCV003478103

NM_000057.4(BLM):c.1481C>T (p.Thr494Ile)

SNV
Germline

Chr15:90760854

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA393843153

rs_751600686

4 SubmittersRCV000535993 RCV002395272

NM_000057.4(BLM):c.1785A>T (p.Ser595=)

SNV
Germline

Chr15:90761158

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7738587

rs_79871543

5 SubmittersRCV000528528 RCV001013171 RCV001269111

NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)

SNV
Germline

Chr15:90761198

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738589

rs_770255643

3 SubmittersRCV000553465 RCV001013273

NM_000057.4(BLM):c.2839A>G (p.Ile947Val)

SNV
Germline

Chr15:90790664

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738884

rs_189925962

8 SubmittersRCV000541196 RCV001016575 RCV001030457 RCV001194357 RCV003153670 RCV003478099

NM_000057.4(BLM):c.4077-5T>C

SNV
Germline

Chr15:90815097

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7739195

rs_200653178

5 SubmittersRCV000539615 RCV001021816 RCV001702499

NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)

SNV
Germline

Chr15:90815245

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7739215

rs_557057587

6 SubmittersRCV000543803 RCV001022081 RCV002476078

NM_000057.4(BLM):c.437A>T (p.Asp146Val)

SNV
Germline

Chr15:90749705

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

CA274728070

rs_902876126

3 SubmittersRCV000564374 RCV000791833

NM_000057.4(BLM):c.1100G>A (p.Ser367Asn)

SNV
Germline

Chr15:90760159

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7738464

rs_772176483

3 SubmittersRCV000571670 RCV001058471 RCV003153744

NM_000057.4(BLM):c.1195G>A (p.Glu399Lys)

SNV
Germline

Chr15:90760254

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738481

rs_538728271

4 SubmittersRCV000565340 RCV000628690 RCV001800791

NM_000057.4(BLM):c.1209G>C (p.Gln403His)

SNV
Germline

Chr15:90760268

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

CA393842555

rs_1555419741

2 SubmittersRCV000562284 RCV001313055

NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg)

SNV
Germline

Chr15:90811397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA274729005

rs_945181516

4 SubmittersRCV000568146 RCV001227793 RCV003392414

NM_000057.4(BLM):c.3813G>A (p.Leu1271=)

SNV
Germline

Chr15:90809198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
Condition: not provided
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7739114

rs_376082823

4 SubmittersRCV000564769 RCV000628715 RCV001805194 RCV003905491

NM_000057.4(BLM):c.248A>G (p.Gln83Arg)

SNV
Germline

Chr15:90749516

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA274727856

rs_377192173

3 SubmittersRCV000628616 RCV002431843 RCV003432654

NM_000057.4(BLM):c.635C>T (p.Ser212Phe)

SNV
Germline

Chr15:90749903

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738318

rs_777938065

4 SubmittersRCV000628652 RCV001025173

NM_000057.4(BLM):c.722G>A (p.Gly241Asp)

SNV
Germline

Chr15:90749990

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738336

rs_200897029

4 SubmittersRCV000628619 RCV001026183 RCV002275094

NM_000057.4(BLM):c.960-4G>A

SNV
Germline

Chr15:90754807

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA658798430

rs_1555418976

3 SubmittersRCV000628697 RCV001019548 RCV003420088

NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)

SNV
Germline

Chr15:90782827

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7738822

rs_758692622

5 SubmittersRCV000628681 RCV001015940 RCV003478339

NM_000057.4(BLM):c.3559-1G>A

SNV
Germline

Chr15:90804166

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

CA393847872

rs_1555424368

2 SubmittersRCV000628634

NM_000057.4(BLM):c.1121A>G (p.His374Arg)

SNV
Germline

Chr15:90760180

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738468

rs_776225502

3 SubmittersRCV000628642 RCV002438627

NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)

SNV
Germline

Chr15:90760847

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7738540

rs_764182382

4 SubmittersRCV000628667 RCV001011740 RCV003317305

NM_000057.4(BLM):c.2434A>C (p.Lys812Gln)

SNV
Germline

Chr15:90769465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7738777

rs_763827222

4 SubmittersRCV001015520 RCV000628656 RCV003153768

NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)

SNV
Germline

Chr15:90803667

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7739047

rs_777492549

6 SubmittersRCV000628682 RCV001020473 RCV001800832 RCV003153769

NM_000057.4(BLM):c.245A>G (p.Asn82Ser)

SNV
Germline

Chr15:90749513

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA393839943

rs_1555418292

2 SubmittersRCV000628614 RCV002448923

NM_000057.4(BLM):c.1096A>C (p.Ile366Leu)

SNV
Germline

Chr15:90760155

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7738462

rs_552913880

3 SubmittersRCV000628658 RCV004025326

NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)

SNV
Germline

Chr15:90811352

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA7739175

rs_201149857

3 SubmittersRCV000628645 RCV001021691 RCV001030462

NM_000057.4(BLM):c.1883-2A>G

SNV
Unknown

Chr15:90762964

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1555420142

1 SubmittersRCV000668047

NM_000057.4(BLM):c.3874+2T>C

SNV
Germline

Chr15:90809261

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555424890

3 SubmittersRCV000665122

NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter)

SNV
Unknown

Chr15:90811267

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1555425074

1 SubmittersRCV000664850

NM_000057.4(BLM):c.1087+1G>A

SNV
Germline

Chr15:90754939

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1179486581

3 SubmittersRCV000669379

NM_000057.4(BLM):c.2407-1G>A

SNV
Unknown

Chr15:90769437

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1555420871

1 SubmittersRCV000667408

NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)

SNV
Germline

Chr15:90794310

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_746218707

3 SubmittersRCV000664476 RCV002325337

NM_000057.4(BLM):c.1A>C (p.Met1Leu)

SNV
Unknown

Chr15:90747393

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1215497457

1 SubmittersRCV000674307

NM_000057.4(BLM):c.1088-1G>A

SNV
Germline

Chr15:90760146

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555419696

3 SubmittersRCV000669294

NM_000057.4(BLM):c.1220+1G>A

SNV
Unknown

Chr15:90760280

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1555419748

1 SubmittersRCV000668749

NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)

SNV
Germline

Chr15:90760674

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_754203833

6 SubmittersRCV000671593 RCV001010863 RCV002508246

NM_000057.4(BLM):c.2555+1G>T

SNV
Unknown

Chr15:90769587

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1555420917

1 SubmittersRCV000673166

NM_000057.4(BLM):c.99-1G>C

SNV
Unknown

Chr15:90749366

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_897262346

1 SubmittersRCV000668031

NM_000057.4(BLM):c.1221-2A>C

SNV
Germline

Chr15:90760592

Conflicting classifications of pathogenicity

Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_1555419779

3 SubmittersRCV000670242

NM_000057.4(BLM):c.2824-1G>C

SNV
Germline

Chr15:90790648

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555423062

2 SubmittersRCV000666970

NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)

SNV
Germline

Chr15:90803601

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_770311534

4 SubmittersRCV000681632 RCV001020308

NM_000057.4(BLM):c.137A>G (p.Asn46Ser)

SNV
Germline

Chr15:90749405

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1237910576

4 SubmittersRCV000699899 RCV001030678 RCV002386236

NM_000057.4(BLM):c.280C>T (p.Pro94Ser)

SNV
Germline

Chr15:90749548

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1417089374

2 SubmittersRCV000706284 RCV002440544

NM_000057.4(BLM):c.302G>C (p.Arg101Thr)

SNV
Germline

Chr15:90749570

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_781707344

4 SubmittersRCV000695665 RCV001018185 RCV002249411

NM_000057.4(BLM):c.835G>T (p.Glu279Ter)

SNV
Germline

Chr15:90751822

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1567036566

1 SubmittersRCV000706208

NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)

SNV
Germline

Chr15:90803718

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750532596

7 SubmittersRCV000687324 RCV001020601 RCV002293470

NM_000057.4(BLM):c.379A>G (p.Thr127Ala)

SNV
Germline

Chr15:90749647

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_528474170

2 SubmittersRCV000695100 RCV002352155

NM_000057.4(BLM):c.1156A>G (p.Ile386Val)

SNV
Germline

Chr15:90760215

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_757636363

3 SubmittersRCV000687587 RCV001010017

NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)

SNV
Germline

Chr15:90760863

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_368547042

4 SubmittersRCV000695709 RCV001011868

NM_000057.4(BLM):c.395G>A (p.Arg132Gln)

SNV
Germline

Chr15:90749663

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775197136

6 SubmittersRCV000705324 RCV001021526 RCV001579393

NM_000057.4(BLM):c.657T>G (p.Asp219Glu)

SNV
Germline

Chr15:90749925

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1447056195

3 SubmittersRCV000686276 RCV002360716

NM_000057.4(BLM):c.1319A>G (p.Glu440Gly)

SNV
Germline

Chr15:90760692

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567040910

3 SubmittersRCV000686664 RCV001010964

NM_000057.4(BLM):c.376C>T (p.Pro126Ser)

SNV
Germline

Chr15:90749644

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587778106

3 SubmittersRCV000690709 RCV001021089

NM_000057.4(BLM):c.1462G>T (p.Glu488Ter)

SNV
Germline

Chr15:90760835

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1477193473

1 SubmittersRCV000700601

NM_000057.4(BLM):c.2662+2T>C

SNV
Germline

Chr15:90782930

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567052324

4 SubmittersRCV000700888 RCV004026532

NM_000057.4(BLM):c.888T>C (p.Tyr296=)

SNV
Germline

Chr15:90751875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_139277089

3 SubmittersRCV000708672 RCV001457740

NM_000057.4(BLM):c.955C>T (p.Leu319Phe)

SNV
Germline

Chr15:90751942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_1567036793

4 SubmittersRCV000708673 RCV001205386

NM_000057.4(BLM):c.1216A>G (p.Ile406Val)

SNV
Germline

Chr15:90760275

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_769498398

3 SubmittersRCV000709359 RCV002352228 RCV003492149

NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)

SNV
Germline

Chr15:90766974

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1400231534

3 SubmittersRCV000709362 RCV004026782

NM_000057.4(BLM):c.2556-8T>C

SNV
Germline

Chr15:90782814

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_1567052156

3 SubmittersRCV000709365 RCV002256491 RCV003492150

NM_000057.4(BLM):c.2663-2A>G

SNV
Unknown

Chr15:90784919

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1567053170

1 SubmittersRCV000709368

NM_000057.4(BLM):c.3340C>T (p.Leu1114=)

SNV
Germline

Chr15:90798319

Conflicting classifications of pathogenicity

Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_1567060305

2 SubmittersRCV000709370

NM_000057.4(BLM):c.3237C>T (p.Asp1079=)

SNV
Germline

Chr15:90798216

Conflicting classifications of pathogenicity

Condition: not provided
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_148237075

4 SubmittersRCV000732828 RCV001078554 RCV001019348

NM_000057.4(BLM):c.3267A>G (p.Gln1089=)

SNV
Germline

Chr15:90798246

Conflicting classifications of pathogenicity

Bloom syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1396484162

5 SubmittersRCV000768157 RCV001816825 RCV003279048 RCV003884722

NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)

SNV
Germline

Chr15:90760149

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567040469

5 SubmittersRCV000779836 RCV002442599

NM_000057.4(BLM):c.256G>C (p.Val86Leu)

SNV
Germline

Chr15:90749524

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1596218041

3 SubmittersRCV000820301 RCV002427050

NM_000057.4(BLM):c.335T>C (p.Leu112Ser)

SNV
Germline

Chr15:90749603

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1038386076

4 SubmittersRCV000801940 RCV002325542 RCV003478501

NM_000057.4(BLM):c.353T>C (p.Val118Ala)

SNV
Germline

Chr15:90749621

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_768933887

3 SubmittersRCV000798838 RCV002458446

NM_000057.4(BLM):c.394C>T (p.Arg132Trp)

SNV
Germline

Chr15:90749662

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765089689

4 SubmittersRCV000800577 RCV001021498 RCV003478499

NM_000057.4(BLM):c.820A>G (p.Asn274Asp)

SNV
Germline

Chr15:90751807

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750551907

5 SubmittersRCV000793913 RCV002424800 RCV003226978

NM_000057.4(BLM):c.1015A>G (p.Lys339Glu)

SNV
Germline

Chr15:90754866

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1596223833

3 SubmittersRCV000823664 RCV002336724

NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)

SNV
Germline

Chr15:90760279

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1350192744

3 SubmittersRCV000811037 RCV002363095

NM_000057.4(BLM):c.1288T>C (p.Tyr430His)

SNV
Germline

Chr15:90760661

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1314473930

3 SubmittersRCV000804510 RCV002381763

NM_000057.4(BLM):c.1415C>A (p.Thr472Asn)

SNV
Germline

Chr15:90760788

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_368967327

3 SubmittersRCV000803622 RCV002388501

NM_000057.4(BLM):c.1546G>T (p.Glu516Ter)

SNV
Germline

Chr15:90760919

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1596230118

1 SubmittersRCV000823524

NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys)

SNV
Germline

Chr15:90798272

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_912777535

3 SubmittersRCV000804819 RCV002325561

NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter)

SNV
Germline

Chr15:90803658

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596267627

4 SubmittersRCV000809430 RCV002255532 RCV003311895

NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr)

SNV
Germline

Chr15:90811288

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1596273579

2 SubmittersRCV000818087 RCV002352442

NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)

SNV
Germline

Chr15:90811315

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_190652985

3 SubmittersRCV000796643 RCV001021582

NM_000057.4(BLM):c.960-1G>A

SNV
Germline

Chr15:90754810

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596223715

3 SubmittersRCV000797339

NM_000057.4(BLM):c.98+1G>C

SNV
Germline

Chr15:90747491

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_750293380

8 SubmittersRCV000826134 RCV001019784 RCV002462193

NM_000057.4(BLM):c.2809C>T (p.Gln937Ter)

SNV
Germline

Chr15:90785067

Pathogenic

Bloom syndrome

No Assertion Criteria Provided

rs_1596252279

1 SubmittersRCV001007657

NM_000057.4(BLM):c.2193+1G>A

SNV
Germline

Chr15:90765415

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_865866188

4 SubmittersRCV000855680 RCV001014688

NM_000057.4(BLM):c.3933C>T (p.Ala1311=)

SNV
Germline

Chr15:90811263

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_756451802

4 SubmittersRCV000871824 RCV002372466

NM_000057.4(BLM):c.800-4G>A

SNV
Germline

Chr15:90751783

Conflicting classifications of pathogenicity

Bloom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1338362749

2 SubmittersRCV001498854 RCV003478570

NM_000057.4(BLM):c.1417A>G (p.Thr473Ala)

SNV
Germline

Chr15:90760790

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1596229797

3 SubmittersRCV000989386 RCV002391048

NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)

SNV
Germline

Chr15:90763088

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596232266

2 SubmittersRCV000989387 RCV002416269

NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)

SNV
Germline

Chr15:90794311

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_367543029

5 SubmittersRCV000989396 RCV002320201 RCV003478602

NM_000057.4(BLM):c.329A>G (p.Asp110Gly)

SNV
Germline

Chr15:90749597

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1292239409

4 SubmittersRCV001019773 RCV001341837 RCV001805974

NM_000057.4(BLM):c.664G>A (p.Glu222Lys)

SNV
Germline

Chr15:90749932

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_774075577

4 SubmittersRCV001025499 RCV001418845

NM_000057.4(BLM):c.670C>T (p.Gln224Ter)

SNV
Germline

Chr15:90749938

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_918752814

3 SubmittersRCV001025562 RCV002550917

NM_000057.4(BLM):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr15:90751816

Pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596221020

2 SubmittersRCV001027379 RCV001387853

NM_000057.4(BLM):c.972C>T (p.Asp324=)

SNV
Germline

Chr15:90754823

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_769094708

3 SubmittersRCV001019684 RCV001819731 RCV003505160

NM_000057.4(BLM):c.991A>G (p.Lys331Glu)

SNV
Germline

Chr15:90754842

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_1596223773

2 SubmittersRCV001019888 RCV002550852

NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)

SNV
Germline

Chr15:90761074

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1356090839

4 SubmittersRCV001012779 RCV001194354

NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)

SNV
Germline

Chr15:90761157

Pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_138943954

4 SubmittersRCV001013170 RCV001832335

NM_000057.4(BLM):c.2205A>T (p.Thr735=)

SNV
Germline

Chr15:90766921

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_757134420

2 SubmittersRCV001014721 RCV003769468

NM_000057.4(BLM):c.2211G>C (p.Leu737=)

SNV
Germline

Chr15:90766927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_933356579

3 SubmittersRCV001014805 RCV001120216

NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn)

SNV
Germline

Chr15:90769175

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_779746222

4 SubmittersRCV001015260 RCV001275697 RCV003153885

NM_000057.4(BLM):c.2661A>G (p.Pro887=)

SNV
Germline

Chr15:90782927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

rs_753160480

4 SubmittersRCV001016147 RCV001040335 RCV001819728 RCV003953429

NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn)

SNV
Germline

Chr15:90811276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_779179608

3 SubmittersRCV001021489 RCV001273626

NM_000057.4(BLM):c.4024T>C (p.Ser1342Pro)

SNV
Germline

Chr15:90811354

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_1596273687

2 SubmittersRCV001021698 RCV001313764

NM_000057.4(BLM):c.2075-1G>A

SNV
Germline

Chr15:90765295

Likely pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1231598990

2 SubmittersRCV001014335 RCV001068255

NM_000057.4(BLM):c.2308-5C>T

SNV
Germline

Chr15:90769128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_957805754

3 SubmittersRCV001015151 RCV001276026

NM_000057.4(BLM):c.2556-2A>G

SNV
Germline

Chr15:90782820

Likely pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596250255

2 SubmittersRCV001015947 RCV001065154

NM_000057.4(BLM):c.3751+2T>C

SNV
Germline

Chr15:90804361

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1897239414

2 SubmittersRCV001030460 RCV002552042

NM_000057.4(BLM):c.145G>A (p.Val49Ile)

SNV
Germline

Chr15:90749413

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_558379347

3 SubmittersRCV001071066 RCV002393341

NM_000057.4(BLM):c.934T>A (p.Ser312Thr)

SNV
Germline

Chr15:90751921

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_372454889

2 SubmittersRCV001044862 RCV002372786

NM_000057.4(BLM):c.1057C>G (p.Leu353Val)

SNV
Germline

Chr15:90754908

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1895778737

3 SubmittersRCV001061235 RCV002411571

NM_000057.4(BLM):c.1214A>G (p.Asn405Ser)

SNV
Germline

Chr15:90760273

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_752223894

2 SubmittersRCV001047878 RCV002355026

NM_000057.4(BLM):c.2409G>A (p.Trp803Ter)

SNV
Germline

Chr15:90769440

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1896235438

2 SubmittersRCV001059204 RCV002451246

NM_000057.4(BLM):c.2427A>G (p.Gln809=)

SNV
Germline

Chr15:90769458

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1896236372

2 SubmittersRCV001053214 RCV002451220

NM_000057.4(BLM):c.2556G>T (p.Val852=)

SNV
Germline

Chr15:90782822

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1896650229

4 SubmittersRCV001054976 RCV002436616 RCV001819780

NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)

SNV
Germline

Chr15:90785059

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1896712163

3 SubmittersRCV001055201 RCV003363083

NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter)

SNV
Germline

Chr15:90794234

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1896974524

1 SubmittersRCV001050406

NM_000057.4(BLM):c.960-2A>C

SNV
Germline

Chr15:90754809

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1286600850

2 SubmittersRCV001057874

NM_000057.4(BLM):c.799+1G>T

SNV
Germline

Chr15:90750068

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1895641581

3 SubmittersRCV001071167 RCV002418559

NM_000057.4(BLM):c.2824-2A>C

SNV
Germline

Chr15:90790647

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_745538883

1 SubmittersRCV001065618

NM_000057.4(BLM):c.3020-15C>T

SNV
Germline

Chr15:90794152

Conflicting classifications of pathogenicity

Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_200210516

2 SubmittersRCV001115612

NM_000057.4(BLM):c.382G>A (p.Val128Ile)

SNV
Germline

Chr15:90749650

Conflicting classifications of pathogenicity

Bloom syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1269873284

3 SubmittersRCV001221344 RCV001819914 RCV002356941

NM_000057.4(BLM):c.760G>T (p.Glu254Ter)

SNV
Germline

Chr15:90750028

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_181892828

1 SubmittersRCV001218699

NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)

SNV
Germline

Chr15:90784960

Conflicting classifications of pathogenicity

Bloom syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_758311406

4 SubmittersRCV001224607 RCV002225809 RCV002429952

NM_000057.4(BLM):c.800-2A>G

SNV
Germline

Chr15:90751785

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1895690125

3 SubmittersRCV001224424

NM_000057.4(BLM):c.1220+3A>G

SNV
Germline

Chr15:90760282

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1429490877

2 SubmittersRCV001220808 RCV002365996

NM_000057.4(BLM):c.2556-1G>T

SNV
Germline

Chr15:90782821

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1896650174

2 SubmittersRCV001221740

NM_000057.4(BLM):c.3558+2T>C

SNV
Germline

Chr15:90803722

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1897222054

2 SubmittersRCV001219429 RCV003284070

NM_000057.4(BLM):c.521A>G (p.Gln174Arg)

SNV
Germline

Chr15:90749789

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1895622909

2 SubmittersRCV001233307 RCV002339641

NM_000057.4(BLM):c.865A>G (p.Ile289Val)

SNV
Germline

Chr15:90751852

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1895693953

2 SubmittersRCV001227052 RCV004032591

NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter)

SNV
Germline

Chr15:90765318

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1896092339

1 SubmittersRCV001234159

NM_000057.4(BLM):c.2221A>T (p.Lys741Ter)

SNV
Germline

Chr15:90766937

Pathogenic/Likely pathogenic

Bloom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1896146578

2 SubmittersRCV001238842 RCV003227015

NM_000057.4(BLM):c.397G>A (p.Asp133Asn)

SNV
Germline

Chr15:90749665

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_762621627

3 SubmittersRCV001247344 RCV002357051

NM_000057.4(BLM):c.497C>G (p.Ser166Ter)

SNV
Germline

Chr15:90749765

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_896357448

1 SubmittersRCV001241670

NM_000057.4(BLM):c.883G>A (p.Asp295Asn)

SNV
Germline

Chr15:90751870

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_146096923

3 SubmittersRCV001244495 RCV002375294

NM_000057.4(BLM):c.3307G>A (p.Val1103Ile)

SNV
Germline

Chr15:90798286

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_748331529

3 SubmittersRCV001242527 RCV002322151

NM_000057.4(BLM):c.960-1G>T

SNV
Germline

Chr15:90754810

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1596223715

3 SubmittersRCV001236569 RCV004033316

NM_000057.4(BLM):c.3020-258A>G

SNV
Germline

Chr15:90793909

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1301751251

3 SubmittersRCV001256002

NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter)

SNV
Germline

Chr15:90803541

Pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1897212605

2 SubmittersRCV001256003

NM_000057.4(BLM):c.3299T>G (p.Ile1100Arg)

SNV
Germline

Chr15:90798278

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_755282763

3 SubmittersRCV001297400 RCV003166662

NM_000057.4(BLM):c.615G>T (p.Lys205Asn)

SNV
Germline

Chr15:90749883

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_28903082

2 SubmittersRCV001326664 RCV004035212

NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)

SNV
Germline

Chr15:90769438

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_148394770

3 SubmittersRCV001321100 RCV002447359

NM_000057.4(BLM):c.4102T>A (p.Ser1368Thr)

SNV
Germline

Chr15:90815127

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587778104

3 SubmittersRCV001316835 RCV002322228

NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn)

SNV
Germline

Chr15:90815149

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139115275

4 SubmittersRCV001312252 RCV002327690 RCV002469372

NM_000057.4(BLM):c.1844A>G (p.Gln615Arg)

SNV
Germline

Chr15:90761217

Conflicting classifications of pathogenicity

Bloom syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_1895978967

2 SubmittersRCV001349441 RCV003154008

NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala)

SNV
Germline

Chr15:90803697

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1344786638

2 SubmittersRCV001341350 RCV002341700

NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg)

SNV
Germline

Chr15:90815257

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1897532698

3 SubmittersRCV001344164 RCV002329323

NM_000057.4(BLM):c.454A>G (p.Asn152Asp)

SNV
Germline

Chr15:90749722

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151147384

2 SubmittersRCV001364803 RCV004036924

NM_000057.4(BLM):c.1883-1G>A

SNV
Germline

Chr15:90762965

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_772230310

1 SubmittersRCV001379778

NM_000057.4(BLM):c.2662+2T>G

SNV
Germline

Chr15:90782930

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567052324

2 SubmittersRCV001377320

NM_000057.4(BLM):c.2663-1G>C

SNV
Germline

Chr15:90784920

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1444037196

2 SubmittersRCV001377176

NM_000057.4(BLM):c.3875-1G>A

SNV
Germline

Chr15:90811204

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151199690

2 SubmittersRCV001377094 RCV002357280

NM_000057.4(BLM):c.589C>T (p.Gln197Ter)

SNV
Germline

Chr15:90749857

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151147666

1 SubmittersRCV001386785

NM_000057.4(BLM):c.689G>A (p.Trp230Ter)

SNV
Germline

Chr15:90749957

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151147939

1 SubmittersRCV001386838

NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)

SNV
Germline

Chr15:90760865

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151158332

2 SubmittersRCV001380476

NM_000057.4(BLM):c.1628T>G (p.Leu543Ter)

SNV
Germline

Chr15:90761001

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_367543038

1 SubmittersRCV001389745

NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)

SNV
Germline

Chr15:90762972

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151160492

2 SubmittersRCV001386984

NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)

SNV
Germline

Chr15:90767008

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151164019

1 SubmittersRCV001385069

NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)

SNV
Germline

Chr15:90769441

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1412341951

2 SubmittersRCV001388693

NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter)

SNV
Germline

Chr15:90782858

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1896651394

1 SubmittersRCV001380595

NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter)

SNV
Germline

Chr15:90798260

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1472603091

2 SubmittersRCV001381688 RCV002447509

NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter)

SNV
Germline

Chr15:90804242

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1897234496

1 SubmittersRCV001383124

NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter)

SNV
Germline

Chr15:90804254

Pathogenic/Likely pathogenic

Bloom syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151194897

2 SubmittersRCV001381701 RCV003478807

NM_000057.4(BLM):c.852G>A (p.Glu284=)

SNV
Germline

Chr15:90751839

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_2151149592

3 SubmittersRCV001428162 RCV003355470 RCV001820123

NM_000057.4(BLM):c.227C>T (p.Pro76Leu)

SNV
Germline

Chr15:90749495

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_774515970

2 SubmittersRCV001484883 RCV002449283

NM_000057.4(BLM):c.1674A>T (p.Ile558=)

SNV
Germline

Chr15:90761047

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_770573584

3 SubmittersRCV001559215 RCV003298929

NM_000057.4(BLM):c.3019+11C>A

SNV
Germline

Chr15:90790855

Conflicting classifications of pathogenicity

Bloom syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776916080

2 SubmittersRCV001761938 RCV003237582

NM_000057.4(BLM):c.83C>G (p.Ser28Ter)

SNV
Germline

Chr15:90747475

Pathogenic/Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151145090

3 SubmittersRCV001782196 RCV002440874

NM_000057.4(BLM):c.540A>C (p.Val180=)

SNV
Germline

Chr15:90749808

Conflicting classifications of pathogenicity

not specified
Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_763776756

2 SubmittersRCV001820287 RCV002077301

NM_000057.4(BLM):c.2148G>A (p.Leu716=)

SNV
Germline

Chr15:90765369

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151162471

3 SubmittersRCV001822545 RCV003614090 RCV002425091

NM_000057.4(BLM):c.1489C>T (p.Gln497Ter)

SNV
Germline

Chr15:90760862

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151158321

1 SubmittersRCV001944778

NM_000057.4(BLM):c.742A>G (p.Ile248Val)

SNV
Germline

Chr15:90750010

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_558524280

2 SubmittersRCV001913746 RCV002386710

NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)

SNV
Germline

Chr15:90804286

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1897236255

2 SubmittersRCV002021875

NM_000057.4(BLM):c.2725C>T (p.Gln909Ter)

SNV
Germline

Chr15:90784983

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1456964727

1 SubmittersRCV001941705

NM_000057.4(BLM):c.3271C>A (p.His1091Asn)

SNV
Germline

Chr15:90798250

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_766959096

2 SubmittersRCV001972917 RCV002442961

NM_000057.4(BLM):c.2406+5A>G

SNV
Germline

Chr15:90769236

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_763104913

2 SubmittersRCV001907445 RCV002449493

NM_000057.4(BLM):c.1154C>A (p.Thr385Asn)

SNV
Germline

Chr15:90760213

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_202009716

2 SubmittersRCV001976316 RCV004042292

NM_000057.4(BLM):c.2307+2T>G

SNV
Germline

Chr15:90767025

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151164052

1 SubmittersRCV002017409

NM_000057.4(BLM):c.583A>T (p.Lys195Ter)

SNV
Germline

Chr15:90749851

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151147654

1 SubmittersRCV001905472

NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp)

SNV
Germline

Chr15:90811391

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_891751726

2 SubmittersRCV002028880 RCV004046122

NM_000057.4(BLM):c.2794C>T (p.Gln932Ter)

SNV
Germline

Chr15:90785052

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151179928

1 SubmittersRCV001874514

NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)

SNV
Germline

Chr15:90782861

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060503989

2 SubmittersRCV001903058

NM_000057.4(BLM):c.74T>G (p.Leu25Ter)

SNV
Germline

Chr15:90747466

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1895534883

2 SubmittersRCV001878750

NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)

SNV
Germline

Chr15:90809248

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151198389

2 SubmittersRCV001916169

NM_000057.4(BLM):c.2167C>T (p.Gln723Ter)

SNV
Germline

Chr15:90765388

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151162501

1 SubmittersRCV001916223

NM_000057.4(BLM):c.3875-2A>T

SNV
Germline

Chr15:90811203

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_150421256

1 SubmittersRCV002011275

NM_000057.4(BLM):c.2131G>A (p.Val711Ile)

SNV
Germline

Chr15:90765352

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151162449

2 SubmittersRCV001934363 RCV002423105

NM_000057.4(BLM):c.43C>A (p.Arg15Ser)

SNV
Germline

Chr15:90747435

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_148545569

2 SubmittersRCV001990389 RCV003303521

NM_000057.4(BLM):c.3751+1G>A

SNV
Germline

Chr15:90804360

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1897239335

1 SubmittersRCV002012726

NM_000057.4(BLM):c.1732A>T (p.Lys578Ter)

SNV
Germline

Chr15:90761105

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151158869

1 SubmittersRCV001893678

NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter)

SNV
Germline

Chr15:90809249

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151198391

1 SubmittersRCV001946986

NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter)

SNV
Germline

Chr15:90811357

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151199939

1 SubmittersRCV001943383

NM_000057.4(BLM):c.2823+2T>A

SNV
Germline

Chr15:90785083

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1896712920

3 SubmittersRCV002014207

NM_000057.4(BLM):c.919G>T (p.Glu307Ter)

SNV
Germline

Chr15:90751906

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_766386787

1 SubmittersRCV002039725

NM_000057.4(BLM):c.960-3C>T

SNV
Germline

Chr15:90754808

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_878962653

2 SubmittersRCV001961672 RCV003303530

NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu)

SNV
Germline

Chr15:90811278

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_375896520

3 SubmittersRCV001899742 RCV002359300 RCV003154205

NM_000057.4(BLM):c.2404C>T (p.Gln802Ter)

SNV
Germline

Chr15:90769229

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151165848

1 SubmittersRCV001959206

NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter)

SNV
Germline

Chr15:90809143

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_2151198266

1 SubmittersRCV001981961

NM_000057.4(BLM):c.1882+1G>C

SNV
Germline

Chr15:90761256

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_757841012

1 SubmittersRCV002010406

NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter)

SNV
Germline

Chr15:90794292

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

rs_1188753950

1 SubmittersRCV001949630

NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)

SNV
Germline

Chr15:90760610

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_887921909

2 SubmittersRCV001982147

NM_000057.4(BLM):c.3491A>G (p.Asn1164Ser)

SNV
Germline

Chr15:90803653

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_751855048

2 SubmittersRCV001938055 RCV002458779

NM_000057.4(BLM):c.1054G>T (p.Glu352Ter)

SNV
Germline

Chr15:90754905

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_369583279

2 SubmittersRCV001886188 RCV003382681

NM_000057.4(BLM):c.2622G>A (p.Val874=)

SNV
Germline

Chr15:90782888

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_760261440

2 SubmittersRCV002093064 RCV003365689

NM_000057.4(BLM):c.2583T>C (p.Asn861=)

SNV
Germline

Chr15:90782849

Conflicting classifications of pathogenicity

Bloom syndrome

Criteria Provided
Conflicting Classifications

rs_1896651230

2 SubmittersRCV002217159

NM_000057.4(BLM):c.2663-5G>C

SNV
Germline

Chr15:90784916

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1161787867

2 SubmittersRCV002110894 RCV003308000

NM_000057.4(BLM):c.3495C>G (p.Asp1165Glu)

SNV
Germline

Chr15:90803657

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_767536788

2 SubmittersRCV002127859 RCV004046539

NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)

SNV
Germline

Chr15:90790680

Likely pathogenic

Bloom syndrome

No Assertion Criteria Provided

1 SubmittersRCV002291105

NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)

SNV
Germline

Chr15:90803672

Pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002459215 RCV003102387

NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)

SNV
Germline

Chr15:90798292

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002454718 RCV003099391

NM_000057.4(BLM):c.962C>T (p.Thr321Met)

SNV
Germline

Chr15:90754813

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003094845 RCV002385347

NM_000057.4(BLM):c.856G>A (p.Val286Ile)

SNV
Germline

Chr15:90751843

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002447883 RCV003099975

NM_000057.4(BLM):c.980C>T (p.Thr327Ile)

SNV
Germline

Chr15:90754831

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002376807 RCV003505248

NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)

SNV
Germline

Chr15:90760663

Pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002383303 RCV003774239

NM_000057.4(BLM):c.1049T>C (p.Met350Thr)

SNV
Germline

Chr15:90754900

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002400952 RCV003774413

NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)

SNV
Germline

Chr15:90761238

Pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002414987 RCV003100896

NM_000057.4(BLM):c.2555+1G>A

SNV
Germline

Chr15:90769587

Likely pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002433332 RCV003101966

NM_000057.4(BLM):c.2209C>A (p.Leu737Met)

SNV
Germline

Chr15:90766925

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003098715 RCV002425827

NM_000057.4(BLM):c.254G>A (p.Arg85Lys)

SNV
Germline

Chr15:90749522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002434950 RCV003614180

NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)

SNV
Germline

Chr15:90794265

Pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003058483

NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)

SNV
Germline

Chr15:90766924

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003081168

NM_000057.4(BLM):c.461G>A (p.Trp154Ter)

SNV
Germline

Chr15:90749729

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003093333 RCV003161737

NM_000057.4(BLM):c.646G>T (p.Glu216Ter)

SNV
Germline

Chr15:90749914

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002588044

NM_000057.4(BLM):c.1064C>A (p.Pro355Gln)

SNV
Germline

Chr15:90754915

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002623977 RCV004070671

NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)

SNV
Germline

Chr15:90809224

Pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003118324 RCV003358132

NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)

SNV
Germline

Chr15:90765362

Conflicting classifications of pathogenicity

Bloom syndrome
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002600102 RCV003477010 RCV003492771

NM_000057.4(BLM):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr15:90747420

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002635373

NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)

SNV
Germline

Chr15:90811321

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002706733

NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)

SNV
Germline

Chr15:90790832

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002810370

NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)

SNV
Germline

Chr15:90790748

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002824690

NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)

SNV
Germline

Chr15:90804219

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002856366

NM_000057.4(BLM):c.3874+1G>A

SNV
Germline

Chr15:90809260

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002876562

NM_000057.4(BLM):c.99-1G>T

SNV
Germline

Chr15:90749366

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002913779

NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)

SNV
Germline

Chr15:90762977

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002867696

NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)

SNV
Germline

Chr15:90785049

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002903884

NM_000057.4(BLM):c.3358+1G>A

SNV
Germline

Chr15:90798338

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002885290 RCV004065024

NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)

SNV
Germline

Chr15:90790751

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002962911

NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)

SNV
Germline

Chr15:90763103

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003011020

NM_000057.4(BLM):c.1220+2T>C

SNV
Germline

Chr15:90760281

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003019439

NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)

SNV
Germline

Chr15:90761205

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003022513

NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)

SNV
Germline

Chr15:90760254

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003023866

NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)

SNV
Germline

Chr15:90760976

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003046822

NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)

SNV
Germline

Chr15:90760152

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003047188

NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)

SNV
Germline

Chr15:90804236

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003057527

NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)

SNV
Germline

Chr15:90760910

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003044385

NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)

SNV
Germline

Chr15:90761205

Pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003341921 RCV003614225

NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)

SNV
Germline

Chr15:90760888

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003358438 RCV003475569

NM_000057.4(BLM):c.959+2T>C

SNV
Unknown

Chr15:90751948

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474355

NM_000057.4(BLM):c.2407-2A>G

SNV
Unknown

Chr15:90769436

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474357

NM_000057.4(BLM):c.3359-2A>G

SNV
Germline

Chr15:90803519

Likely pathogenic

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003474359 RCV004364805

NM_000057.4(BLM):c.1220+1G>T

SNV
Unknown

Chr15:90760280

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474361

NM_000057.4(BLM):c.3359-1G>A

SNV
Unknown

Chr15:90803520

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474366

NM_000057.4(BLM):c.3358+1G>T

SNV
Unknown

Chr15:90798338

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474369

NM_000057.4(BLM):c.1087+1G>T

SNV
Unknown

Chr15:90754939

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474371

NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)

SNV
Germline

Chr15:90760823

Pathogenic/Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474374

NM_000057.4(BLM):c.418G>T (p.Glu140Ter)

SNV
Unknown

Chr15:90749686

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474377

NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)

SNV
Unknown

Chr15:90782908

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474380

NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)

SNV
Unknown

Chr15:90811305

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474381

NM_000057.4(BLM):c.3210+1G>A

SNV
Unknown

Chr15:90794358

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003474382

NM_000057.4(BLM):c.1882+2T>C

SNV
Germline

Chr15:90761257

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474384

NM_000057.4(BLM):c.2307+1G>A

SNV
Germline

Chr15:90767024

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003505777

NM_000057.4(BLM):c.814A>T (p.Lys272Ter)

SNV
Germline

Chr15:90751801

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003506577

NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)

SNV
Germline

Chr15:90784922

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003504948

NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)

SNV
Germline

Chr15:90761178

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003613979

NM_000057.4(BLM):c.952T>C (p.Cys318Arg)

SNV
Germline

Chr15:90751939

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003614909 RCV004371878

NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr)

SNV
Germline

Chr15:90811309

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003614823 RCV004371862

NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)

SNV
Germline

Chr15:90809164

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003614965

NM_000057.4(BLM):c.3211-2A>G

SNV
Germline

Chr15:90798188

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003614896

NM_000057.4(BLM):c.799+1G>A

SNV
Germline

Chr15:90750068

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003615218

NM_000057.4(BLM):c.1087+2T>C

SNV
Germline

Chr15:90754940

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003615260

NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)

SNV
Germline

Chr15:90754902

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003615386

NM_000057.4(BLM):c.557C>A (p.Ser186Ter)

SNV
Germline

Chr15:90749825

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813719

NM_000057.4(BLM):c.1220+2T>G

SNV
Germline

Chr15:90760281

Likely pathogenic

Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003871592

NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)

SNV
Germline

Chr15:90809169

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003870002

NM_000057.4(BLM):c.3559-3A>G

SNV
Germline

Chr15:90804164

Pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004555424

NM_000057.4(BLM):c.960-2A>G

SNV
Unknown

Chr15:90754809

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004575411

NM_000057.4(BLM):c.2663-1G>A

SNV
Unknown

Chr15:90784920

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004575412

NM_000057.4(BLM):c.550C>T (p.Gln184Ter)

SNV
Unknown

Chr15:90749818

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004575413

NM_000057.4(BLM):c.3427G>T (p.Glu1143Ter)

SNV
Unknown

Chr15:90803589

Likely pathogenic

Bloom syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004575414