Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp)	SNV Germline	Chr9:133424434	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA117739	rs_121908467	1 SubmittersRCV000006154
NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly)	SNV Germline	Chr9:133448718	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA117742	rs_121908468	1 SubmittersRCV000006155
NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys)	SNV Germline	Chr9:133424452	Pathogenic/Likely pathogenic	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117745	rs_121908469	3 SubmittersRCV000006156 RCV006277640
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile)	SNV Germline	Chr9:133426246	Pathogenic	Upshaw-Schulman syndrome Condition: not provided Thrombotic thrombocytopenic purpura	Criteria Provided Multiple Submitters No Conflicts	CA117748	rs_121908470	5 SubmittersRCV000006157 RCV001507764 RCV006268071
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His)	SNV Germline	Chr9:133433478	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA117751	rs_121908471	2 SubmittersRCV000006158
NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly)	SNV Germline	Chr9:133454440	Pathogenic/Likely pathogenic	Upshaw-Schulman syndrome Condition: not provided Thrombotic thrombocytopenic purpura	Criteria Provided Multiple Submitters No Conflicts	CA117754	rs_121908472	6 SubmittersRCV000006159 RCV002512821 RCV004700192
NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr)	SNV Germline	Chr9:133456138	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA117766	rs_121908474	1 SubmittersRCV000006164
NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys)	SNV Germline	Chr9:133442504	Pathogenic	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117769	rs_121908475	3 SubmittersRCV000006165 RCV002512822
NM_139027.6(ADAMTS13):c.1584+5G>A	SNV Germline	Chr9:133437902	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200930456	rs_782235228	3 SubmittersRCV000006166 RCV002512823
NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter)	SNV Germline	Chr9:133436865	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA117772	rs_121908476	1 SubmittersRCV000006167
NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro)	SNV Germline	Chr9:133428750	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA117776	rs_121908477	1 SubmittersRCV000006168
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)	SNV Germline	Chr9:133436943	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA117779	rs_11575933	6 SubmittersRCV000006170 RCV000251648 RCV000767050
NM_139027.6(ADAMTS13):c.414+1G>A	SNV Germline	Chr9:133425613	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA212840	rs_786205077	1 SubmittersRCV000006173
NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val)	SNV Germline	Chr9:133428696	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA117785	rs_121908478	1 SubmittersRCV000006174
NM_139027.6(ADAMTS13):c.331-1G>A	SNV Germline	Chr9:133425528	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA212842	rs_786205078	1 SubmittersRCV000006175
NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys)	SNV Germline	Chr9:133432645	Pathogenic/Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA219974	rs_281875288	4 SubmittersRCV000059751 RCV005859492
NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu)	SNV Germline	Chr9:133432658	Pathogenic/Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA219977	rs_281875338	4 SubmittersRCV000059752 RCV005042186
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe)	SNV Germline	Chr9:133442447	Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA220004	rs_281875307	2 SubmittersRCV000059761 RCV000779575
NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg)	SNV Germline	Chr9:133443413	Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA220007	rs_281875300	2 SubmittersRCV000059762 RCV005042187
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met)	SNV Germline	Chr9:133424410	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA220013	rs_281875302	3 SubmittersRCV000059764 RCV000778160
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	SNV Germline	Chr9:133454548	Pathogenic/Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome Thrombotic thrombocytopenic purpura ADAMTS13-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220022	rs_142572218	23 SubmittersRCV000059767 RCV000779576 RCV002469002 RCV003952487
NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys)	SNV Germline	Chr9:133455402	Pathogenic/Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA220025	rs_281875340	4 SubmittersRCV000059768 RCV005042188
NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe)	SNV Unknown	Chr9:133425554	Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA220028	rs_281875291	2 SubmittersRCV000059769 RCV002221146
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)	SNV Germline	Chr9:133426236	Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome ADAMTS13-related disorder	Criteria Provided Single Submitter	CA220047	rs_281875287	3 SubmittersRCV000059775 RCV000516791 RCV003894915
NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His)	SNV Germline	Chr9:133428650	Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA220059	rs_281875337	2 SubmittersRCV000059779 RCV003313775
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys)	SNV Germline	Chr9:133442676	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200934097	rs_138014548	3 SubmittersRCV000490375 RCV002515591
NM_139027.6(ADAMTS13):c.415-5C>T	SNV Germline	Chr9:133425933	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10626722	rs_200230025	5 SubmittersRCV000281583 RCV000929988 RCV003387835
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)	SNV Germline	Chr9:133436890	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided Atypical hemolytic-uremic syndrome not specified ADAMTS13-related disorder	Criteria Provided Conflicting Classifications	CA10626723	rs_36220240	12 SubmittersRCV000279550 RCV000886026 RCV001328115 RCV001420918 RCV003902425
NM_139027.6(ADAMTS13):c.1787-6C>T	SNV Germline	Chr9:133440338	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10626724	rs_781938740	2 SubmittersRCV000340502 RCV005055940
NM_139027.6(ADAMTS13):c.2107C>T (p.Leu703=)	SNV Germline	Chr9:133442616	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10629414	rs_146314458	3 SubmittersRCV000370696 RCV003546556 RCV005407083
NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln)	SNV Germline	Chr9:133449836	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10629426	rs_139951127	4 SubmittersRCV000284710 RCV002523750 RCV006458321
NM_139027.6(ADAMTS13):c.3044+10C>T	SNV Germline	Chr9:133449975	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10629429	rs_375335095	2 SubmittersRCV000290578 RCV003727721
NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=)	SNV Germline	Chr9:133456163	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10629431	rs_144916851	3 SubmittersRCV000393277 RCV000925152
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)	SNV Germline	Chr9:133456653	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10629432	rs_144808448	5 SubmittersRCV000360950 RCV000658135 RCV004689727
NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=)	SNV Germline	Chr9:133436861	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10632751	rs_587602874	2 SubmittersRCV000388478 RCV006612326
NM_139027.6(ADAMTS13):c.1359C>T (p.Thr453=)	SNV Germline	Chr9:133436879	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10632754	rs_148365271	3 SubmittersRCV000330336 RCV002524589
NM_139027.6(ADAMTS13):c.3044+8A>C	SNV Germline	Chr9:133449973	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10632756	rs_886063636	2 SubmittersRCV000384858 RCV003574765
NM_139027.6(ADAMTS13):c.3153C>T (p.Asp1051=)	SNV Germline	Chr9:133454523	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10632757	rs_782748173	2 SubmittersRCV000296620 RCV003574766
NM_139027.6(ADAMTS13):c.3348G>A (p.Leu1116=)	SNV Germline	Chr9:133455383	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10632758	rs_146073007	2 SubmittersRCV000402839 RCV000910664
NM_139027.6(ADAMTS13):c.870C>T (p.Pro290=)	SNV Germline	Chr9:133429984	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10633054	rs_754541465	2 SubmittersRCV000309287 RCV003718228
NM_139027.6(ADAMTS13):c.1435+11C>T	SNV Germline	Chr9:133436966	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10633056	rs_377454829	2 SubmittersRCV000379918 RCV002523748
NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=)	SNV Germline	Chr9:133437864	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10633057	rs_148472763	4 SubmittersRCV000285508 RCV000889644
NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=)	SNV Germline	Chr9:133442726	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10633059	rs_144178018	4 SubmittersRCV000276197 RCV000968853
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met)	SNV Germline	Chr9:133443449	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10633064	rs_374606481	5 SubmittersRCV000367074 RCV000597955 RCV004022108
NM_139027.6(ADAMTS13):c.3400+17G>T	SNV Germline	Chr9:133455452	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10633068	rs_782724202	3 SubmittersRCV000312147 RCV002523751
NM_139027.6(ADAMTS13):c.1585-1G>C	SNV Germline	Chr9:133438245	Likely pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA375393311	rs_1554789680	1 SubmittersRCV000505577
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)	SNV Germline	Chr9:133433657	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome See cases not specified Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA200927187	rs_145825553	9 SubmittersRCV000520845 RCV001253918 RCV003128409 RCV004701597 RCV005901184
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)	SNV Germline	Chr9:133426218	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome not specified Condition: not provided ADAMTS13-related disorder	Criteria Provided Conflicting Classifications	CA200922204	rs_148312697	11 SubmittersRCV000778929 RCV003994114 RCV001507763 RCV004754560
NM_139027.6(ADAMTS13):c.330+1G>A	SNV Germline	Chr9:133424479	Pathogenic/Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200880306	rs_375415632	2 SubmittersRCV000778876
NM_139027.6(ADAMTS13):c.415-1G>A	SNV Germline	Chr9:133425937	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA375382440	rs_1554785114	1 SubmittersRCV000826095
NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=)	SNV Germline	Chr9:133433485	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome not specified	Criteria Provided Conflicting Classifications	CA200926970	rs_142570561	4 SubmittersRCV000909420 RCV001168913 RCV004586978
NM_139027.6(ADAMTS13):c.15C>T (p.His5=)	SNV Germline	Chr9:133422458	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200879008	rs_77985067	2 SubmittersRCV001168075 RCV002559608
NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=)	SNV Germline	Chr9:133424379	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200880169	rs_367627378	3 SubmittersRCV001168077 RCV003727933
NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys)	SNV Germline	Chr9:133433441	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200926912	rs_142214608	4 SubmittersRCV001168911 RCV002557458
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)	SNV Germline	Chr9:133433442	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200926915	rs_151048660	6 SubmittersRCV001168912 RCV001859095
NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=)	SNV Germline	Chr9:133436912	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200929700	rs_782239711	2 SubmittersRCV001166021 RCV002559589
NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=)	SNV Germline	Chr9:133437750	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200930219	rs_372953477	2 SubmittersRCV001167594 RCV006557073
NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=)	SNV Germline	Chr9:133440435	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200932529	rs_781945326	2 SubmittersRCV001166071 RCV005093692
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His)	SNV Germline	Chr9:133440473	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA200932562	rs_138699340	4 SubmittersRCV001166073 RCV004032882 RCV004695084
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)	SNV Germline	Chr9:133444987	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided Thrombus ADAMTS13-related disorder	Criteria Provided Conflicting Classifications	CA200936055	rs_140639242	7 SubmittersRCV001168295 RCV001356938 RCV002280897 RCV003928768
NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met)	SNV Germline	Chr9:133449811	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA200940013	rs_141811556	4 SubmittersRCV001166126 RCV002559590 RCV003994226
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)	SNV Germline	Chr9:133449865	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome not specified	Criteria Provided Conflicting Classifications	CA200940058	rs_36222275	5 SubmittersRCV002119552 RCV003138076 RCV003235673
NM_139027.6(ADAMTS13):c.3400+23C>T	SNV Germline	Chr9:133455458	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200944151	rs_200547311	2 SubmittersRCV001168361 RCV002559614
NM_139027.6(ADAMTS13):c.3400+32C>T	SNV Germline	Chr9:133455467	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA860743402	rs_1554795505	2 SubmittersRCV001168362 RCV003769819
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=)	SNV Germline	Chr9:133456652	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200945494	rs_782463983	3 SubmittersRCV001166190 RCV003769806
NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=)	SNV Germline	Chr9:133459081	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA860747440	rs_1393965473	2 SubmittersRCV001166688 RCV003727929
NM_139027.6(ADAMTS13):c.539+6C>T	SNV Germline	Chr9:133426068	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA200921997	rs_782661001	4 SubmittersRCV001165961 RCV005437009 RCV002557422
NM_139027.6(ADAMTS13):c.824+8C>T	SNV Germline	Chr9:133428779	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA200924031	rs_781862563	2 SubmittersRCV001167528 RCV006465522
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val)	SNV Germline	Chr9:133425950	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200921838	rs_145175796	5 SubmittersRCV001333529 RCV001507762 RCV004035763
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile)	SNV Germline	Chr9:133440367	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided ADAMTS13-related disorder not specified	Criteria Provided Conflicting Classifications	CA200932344	rs_34256013	5 SubmittersRCV001333526 RCV002546637 RCV003426048 RCV005408840
NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln)	SNV Germline	Chr9:133455319	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200943932	rs_373569027	3 SubmittersRCV001358530 RCV005040211
NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr)	SNV Germline	Chr9:133442498	Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200933928	rs_374840594	2 SubmittersRCV001507767 RCV005040297
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)	SNV Germline	Chr9:133449857	Conflicting classifications of pathogenicity	Condition: not provided not specified Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200940053	rs_142779872	5 SubmittersRCV001507770 RCV003490263 RCV004558626
NM_139027.6(ADAMTS13):c.3400+46G>A	SNV Germline	Chr9:133455481	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200944174	rs_782472825	3 SubmittersRCV001507774 RCV005040298 RCV005802194
NM_139027.6(ADAMTS13):c.3488G>A (p.Arg1163Gln)	SNV Germline	Chr9:133456156	Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200944824	rs_782649881	3 SubmittersRCV001508645 RCV005040301
NM_139027.6(ADAMTS13):c.330+2T>C	SNV Unknown	Chr9:133424480	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA375707325	rs_1474290508	1 SubmittersRCV001536088
NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp)	SNV Germline	Chr9:133442639	Likely pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided	CA375397241	rs_1841759683	1 SubmittersRCV001729960
NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys)	SNV Germline	Chr9:133448613	Conflicting classifications of pathogenicity	Condition: not provided ADAMTS13-related disorder Upshaw-Schulman syndrome not specified	Criteria Provided Conflicting Classifications	CA200938991	rs_374444423	6 SubmittersRCV001756677 RCV004754782 RCV005040345 RCV006457479
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)	SNV Germline	Chr9:133445774	Conflicting classifications of pathogenicity	Condition: not provided not specified Upshaw-Schulman syndrome Inborn genetic diseases ADAMTS13-related disorder	Criteria Provided Conflicting Classifications	CA200936784	rs_147732725	6 SubmittersRCV001767161 RCV001821981 RCV002488544 RCV004040131 RCV004754786
NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys)	SNV Germline	Chr9:133437805	Likely pathogenic	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA200930293	rs_201457594	3 SubmittersRCV001785886 RCV003728006
NM_139027.6(ADAMTS13):c.3724+1G>A	SNV Germline	Chr9:133456720	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA375417875	rs_1554796161	1 SubmittersRCV003990476
NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val)	SNV Germline	Chr9:133443525	Conflicting classifications of pathogenicity	not specified Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200934894	rs_201607490	5 SubmittersRCV001822224 RCV002541958 RCV005361740
NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr)	SNV Germline	Chr9:133456150	Pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200944792	rs_200847393	3 SubmittersRCV001843981 RCV005040408
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp)	SNV Germline	Chr9:133433473	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA375389474	rs_1840934191	4 SubmittersRCV001918283 RCV004042737 RCV002484427
NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val)	SNV Germline	Chr9:133455352	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200943993	rs_370060687	3 SubmittersRCV002011031 RCV002492324 RCV005308674
NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter)	SNV Unknown	Chr9:133422527	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA375706775	rs_2130769073	1 SubmittersRCV002223117
NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys)	SNV Germline	Chr9:133442438	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome Inborn genetic diseases ADAMTS13-related disorder	Criteria Provided Conflicting Classifications	CA200933870	rs_139214644	5 SubmittersRCV002261880 RCV002488653 RCV004047419 RCV004754870
NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His)	SNV Germline	Chr9:133442439	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200933871	rs_149953167	4 SubmittersRCV002261881 RCV002488654
NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr)	SNV Germline	Chr9:133455286	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA375411222	rs_1554795391	1 SubmittersRCV002274487
NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys)	SNV Germline	Chr9:133433477	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA200926963	rs_376606652	1 SubmittersRCV002274488
NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)	SNV Germline	Chr9:133454612	Pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA375410941	rs_2490464967	1 SubmittersRCV002283699
NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)	SNV Germline	Chr9:133422528	Pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA375706780	rs_1840019690	1 SubmittersRCV002283959
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)	SNV Germline	Chr9:133433454	Pathogenic	Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200926932	rs_374655146	2 SubmittersRCV002468903
NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)	SNV Germline	Chr9:133438352	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200930791	rs_140628579	3 SubmittersRCV003060484 RCV003138476
NM_139027.6(ADAMTS13):c.703G>T (p.Asp235Tyr)	SNV Germline	Chr9:133428650	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA375384817	rs_281875337	3 SubmittersRCV003062241 RCV005045191
NM_139027.6(ADAMTS13):c.1477A>C (p.Ser493Arg)	SNV Germline	Chr9:133437790	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200930266	rs_377220995	4 SubmittersRCV002886503 RCV003167890 RCV005045036
NM_139027.6(ADAMTS13):c.3400G>A (p.Gly1134Ser)	SNV Germline	Chr9:133455435	Conflicting classifications of pathogenicity	Condition: not provided not specified Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200944106	rs_782311486	4 SubmittersRCV002922155 RCV004587390 RCV005045055 RCV006307259
NM_139027.6(ADAMTS13):c.2254G>A (p.Gly752Ser)	SNV Germline	Chr9:133443395	Conflicting classifications of pathogenicity	Condition: not provided ADAMTS13-related disorder Upshaw-Schulman syndrome not specified	Criteria Provided Conflicting Classifications	CA200934693	rs_148734700	6 SubmittersRCV002971749 RCV003961326 RCV005045121 RCV006269736
NM_139027.6(ADAMTS13):c.687-8C>G	SNV Germline	Chr9:133428626	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200923899	rs_898957135	2 SubmittersRCV002942654 RCV005050665
NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)	SNV Germline	Chr9:133456566	Conflicting classifications of pathogenicity	Condition: not provided ADAMTS13-related disorder Inborn genetic diseases Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200945311	rs_142489534	5 SubmittersRCV002971067 RCV003418672 RCV005542867 RCV005045111
NM_139027.6(ADAMTS13):c.583G>A (p.Val195Ile)	SNV Germline	Chr9:133426242	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200922231	rs_138489501	2 SubmittersRCV002938976 RCV005045085
NM_139027.6(ADAMTS13):c.58G>A (p.Ala20Thr)	SNV Germline	Chr9:133422501	Conflicting classifications of pathogenicity	Inborn genetic diseases Upshaw-Schulman syndrome not specified	Criteria Provided Conflicting Classifications	CA200879055	rs_142293909	3 SubmittersRCV002689537 RCV005052022 RCV004801307
NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala)	SNV Germline	Chr9:133455327	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200943964	rs_944652890	2 SubmittersRCV003148229 RCV005310962
NM_139027.6(ADAMTS13):c.1705+1G>A	SNV Germline	Chr9:133438367	Likely pathogenic	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA375394024	rs_2491219604	2 SubmittersRCV003225617 RCV003565638
NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)	SNV Germline	Chr9:133440478	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA200932571	rs_782547718	1 SubmittersRCV003338169
NM_139027.6(ADAMTS13):c.3158C>T (p.Ala1053Val)	SNV Germline	Chr9:133454528	Conflicting classifications of pathogenicity	Condition: not provided ADAMTS13-related disorder Upshaw-Schulman syndrome not specified	Criteria Provided Conflicting Classifications	CA200943158	rs_373530345	4 SubmittersRCV003481948 RCV003966450 RCV005047626 RCV005419638
NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)	SNV Germline	Chr9:133424453	Likely pathogenic	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Multiple Submitters No Conflicts	CA200880293	rs_782716712	3 SubmittersRCV003480480 RCV005047630
NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)	SNV Germline	Chr9:133433394	Conflicting classifications of pathogenicity	Condition: not provided ADAMTS13-related disorder not specified Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200926852	rs_200406381	6 SubmittersRCV003545210 RCV003966462 RCV004526262 RCV005051323 RCV005323464
NM_139027.6(ADAMTS13):c.4006G>A (p.Glu1336Lys)	SNV Germline	Chr9:133459070	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200947645	rs_782604159	3 SubmittersRCV003843656 RCV005040557 RCV004366927
NM_139027.6(ADAMTS13):c.3714C>T (p.Thr1238=)	SNV Germline	Chr9:133456709	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA2692367644	rs_2490512531	2 SubmittersRCV003859341 RCV005040576
NM_139027.6(ADAMTS13):c.270C>T (p.Pro90=)	SNV Germline	Chr9:133424418	Conflicting classifications of pathogenicity	Condition: not provided Upshaw-Schulman syndrome not specified	Criteria Provided Conflicting Classifications	CA200880262	rs_756898709	3 SubmittersRCV003861087 RCV005040583 RCV005433483
NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg)	SNV Germline	Chr9:133456215	Pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter	CA375415780	rs_2490499610	1 SubmittersRCV003990403
NM_139027.6(ADAMTS13):c.3892A>G (p.Asn1298Asp)	SNV Germline	Chr9:133458077	Conflicting classifications of pathogenicity	Inborn genetic diseases Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications	CA200946909	rs_782109481	2 SubmittersRCV004444464 RCV005358102
NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)	SNV Germline	Chr9:133456652	Likely pathogenic	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA200945493	rs_782463983	2 SubmittersRCV004545919 RCV004791691
NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)	SNV Germline	Chr9:133428672	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome	Criteria Provided Conflicting Classifications		rs_2491101006	2 SubmittersRCV004594808
NM_139027.6(ADAMTS13):c.919G>A (p.Ala307Thr)	SNV Germline	Chr9:133430033	Conflicting classifications of pathogenicity	Inborn genetic diseases Upshaw-Schulman syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications			5 SubmittersRCV004607509 RCV005040714 RCV005102135 RCV005407323
NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter)	SNV Germline	Chr9:133449786	Pathogenic	Upshaw-Schulman syndrome	No Assertion Criteria Provided			1 SubmittersRCV004765392
NM_139027.6(ADAMTS13):c.1054G>A (p.Val352Ile)	SNV Germline	Chr9:133432654	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005040830 RCV004967751
NM_139027.6(ADAMTS13):c.3400+33G>A	SNV Germline	Chr9:133455468	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005046022 RCV005545216
NM_139027.6(ADAMTS13):c.232G>A (p.Gly78Ser)	SNV Germline	Chr9:133424380	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005048954 RCV006307571
NM_139027.6(ADAMTS13):c.280C>T (p.Gln94Ter)	SNV Germline	Chr9:133424428	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005045933
NM_139027.6(ADAMTS13):c.1436-7C>G	SNV Germline	Chr9:133437742	Conflicting classifications of pathogenicity	Upshaw-Schulman syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005048964 RCV006444341
NM_139027.6(ADAMTS13):c.1787-1G>A	SNV Germline	Chr9:133440343	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005045978
NM_139027.6(ADAMTS13):c.2173C>T (p.Gln725Ter)	SNV Germline	Chr9:133442682	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005045992
NM_139027.6(ADAMTS13):c.2237G>A (p.Trp746Ter)	SNV Germline	Chr9:133443378	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005045994
NM_139027.6(ADAMTS13):c.3469T>C (p.Cys1157Arg)	SNV Germline	Chr9:133456137	Likely pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005403801
NM_139027.6(ADAMTS13):c.2153T>A (p.Leu718Ter)	SNV Germline	Chr9:133442662	Pathogenic	Upshaw-Schulman syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005403806

NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp)

SNV
Germline

Chr9:133424434

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA117739

rs_121908467

1 SubmittersRCV000006154

NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly)

SNV
Germline

Chr9:133448718

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA117742

rs_121908468

1 SubmittersRCV000006155

NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys)

SNV
Germline

Chr9:133424452

Pathogenic/Likely pathogenic

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117745

rs_121908469

3 SubmittersRCV000006156 RCV006277640

NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile)

SNV
Germline

Chr9:133426246

Pathogenic

Upshaw-Schulman syndrome
Condition: not provided
Thrombotic thrombocytopenic purpura

Criteria Provided
Multiple Submitters
No Conflicts

CA117748

rs_121908470

5 SubmittersRCV000006157 RCV001507764 RCV006268071

NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His)

SNV
Germline

Chr9:133433478

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA117751

rs_121908471

2 SubmittersRCV000006158

NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly)

SNV
Germline

Chr9:133454440

Pathogenic/Likely pathogenic

Upshaw-Schulman syndrome
Condition: not provided
Thrombotic thrombocytopenic purpura

Criteria Provided
Multiple Submitters
No Conflicts

CA117754

rs_121908472

6 SubmittersRCV000006159 RCV002512821 RCV004700192

NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr)

SNV
Germline

Chr9:133456138

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA117766

rs_121908474

1 SubmittersRCV000006164

NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys)

SNV
Germline

Chr9:133442504

Pathogenic

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117769

rs_121908475

3 SubmittersRCV000006165 RCV002512822

NM_139027.6(ADAMTS13):c.1584+5G>A

SNV
Germline

Chr9:133437902

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200930456

rs_782235228

3 SubmittersRCV000006166 RCV002512823

NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter)

SNV
Germline

Chr9:133436865

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA117772

rs_121908476

1 SubmittersRCV000006167

NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro)

SNV
Germline

Chr9:133428750

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA117776

rs_121908477

1 SubmittersRCV000006168

NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)

SNV
Germline

Chr9:133436943

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA117779

rs_11575933

6 SubmittersRCV000006170 RCV000251648 RCV000767050

NM_139027.6(ADAMTS13):c.414+1G>A

SNV
Germline

Chr9:133425613

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA212840

rs_786205077

1 SubmittersRCV000006173

NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val)

SNV
Germline

Chr9:133428696

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA117785

rs_121908478

1 SubmittersRCV000006174

NM_139027.6(ADAMTS13):c.331-1G>A

SNV
Germline

Chr9:133425528

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA212842

rs_786205078

1 SubmittersRCV000006175

NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys)

SNV
Germline

Chr9:133432645

Pathogenic/Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA219974

rs_281875288

4 SubmittersRCV000059751 RCV005859492

NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu)

SNV
Germline

Chr9:133432658

Pathogenic/Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA219977

rs_281875338

4 SubmittersRCV000059752 RCV005042186

NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe)

SNV
Germline

Chr9:133442447

Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA220004

rs_281875307

2 SubmittersRCV000059761 RCV000779575

NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg)

SNV
Germline

Chr9:133443413

Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA220007

rs_281875300

2 SubmittersRCV000059762 RCV005042187

NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met)

SNV
Germline

Chr9:133424410

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA220013

rs_281875302

3 SubmittersRCV000059764 RCV000778160

NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)

SNV
Germline

Chr9:133454548

Pathogenic/Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome
Thrombotic thrombocytopenic purpura
ADAMTS13-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220022

rs_142572218

23 SubmittersRCV000059767 RCV000779576 RCV002469002 RCV003952487

NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys)

SNV
Germline

Chr9:133455402

Pathogenic/Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA220025

rs_281875340

4 SubmittersRCV000059768 RCV005042188

NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe)

SNV
Unknown

Chr9:133425554

Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA220028

rs_281875291

2 SubmittersRCV000059769 RCV002221146

NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp)

SNV
Germline

Chr9:133426236

Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome
ADAMTS13-related disorder

Criteria Provided
Single Submitter

CA220047

rs_281875287

3 SubmittersRCV000059775 RCV000516791 RCV003894915

NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His)

SNV
Germline

Chr9:133428650

Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA220059

rs_281875337

2 SubmittersRCV000059779 RCV003313775

NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys)

SNV
Germline

Chr9:133442676

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200934097

rs_138014548

3 SubmittersRCV000490375 RCV002515591

NM_139027.6(ADAMTS13):c.415-5C>T

SNV
Germline

Chr9:133425933

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10626722

rs_200230025

5 SubmittersRCV000281583 RCV000929988 RCV003387835

NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)

SNV
Germline

Chr9:133436890

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
Atypical hemolytic-uremic syndrome
not specified
ADAMTS13-related disorder

Criteria Provided
Conflicting Classifications

CA10626723

rs_36220240

12 SubmittersRCV000279550 RCV000886026 RCV001328115 RCV001420918 RCV003902425

NM_139027.6(ADAMTS13):c.1787-6C>T

SNV
Germline

Chr9:133440338

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626724

rs_781938740

2 SubmittersRCV000340502 RCV005055940

NM_139027.6(ADAMTS13):c.2107C>T (p.Leu703=)

SNV
Germline

Chr9:133442616

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10629414

rs_146314458

3 SubmittersRCV000370696 RCV003546556 RCV005407083

NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln)

SNV
Germline

Chr9:133449836

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10629426

rs_139951127

4 SubmittersRCV000284710 RCV002523750 RCV006458321

NM_139027.6(ADAMTS13):c.3044+10C>T

SNV
Germline

Chr9:133449975

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629429

rs_375335095

2 SubmittersRCV000290578 RCV003727721

NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=)

SNV
Germline

Chr9:133456163

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629431

rs_144916851

3 SubmittersRCV000393277 RCV000925152

NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)

SNV
Germline

Chr9:133456653

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10629432

rs_144808448

5 SubmittersRCV000360950 RCV000658135 RCV004689727

NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=)

SNV
Germline

Chr9:133436861

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632751

rs_587602874

2 SubmittersRCV000388478 RCV006612326

NM_139027.6(ADAMTS13):c.1359C>T (p.Thr453=)

SNV
Germline

Chr9:133436879

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632754

rs_148365271

3 SubmittersRCV000330336 RCV002524589

NM_139027.6(ADAMTS13):c.3044+8A>C

SNV
Germline

Chr9:133449973

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632756

rs_886063636

2 SubmittersRCV000384858 RCV003574765

NM_139027.6(ADAMTS13):c.3153C>T (p.Asp1051=)

SNV
Germline

Chr9:133454523

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632757

rs_782748173

2 SubmittersRCV000296620 RCV003574766

NM_139027.6(ADAMTS13):c.3348G>A (p.Leu1116=)

SNV
Germline

Chr9:133455383

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632758

rs_146073007

2 SubmittersRCV000402839 RCV000910664

NM_139027.6(ADAMTS13):c.870C>T (p.Pro290=)

SNV
Germline

Chr9:133429984

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633054

rs_754541465

2 SubmittersRCV000309287 RCV003718228

NM_139027.6(ADAMTS13):c.1435+11C>T

SNV
Germline

Chr9:133436966

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633056

rs_377454829

2 SubmittersRCV000379918 RCV002523748

NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=)

SNV
Germline

Chr9:133437864

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633057

rs_148472763

4 SubmittersRCV000285508 RCV000889644

NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=)

SNV
Germline

Chr9:133442726

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633059

rs_144178018

4 SubmittersRCV000276197 RCV000968853

NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met)

SNV
Germline

Chr9:133443449

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10633064

rs_374606481

5 SubmittersRCV000367074 RCV000597955 RCV004022108

NM_139027.6(ADAMTS13):c.3400+17G>T

SNV
Germline

Chr9:133455452

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633068

rs_782724202

3 SubmittersRCV000312147 RCV002523751

NM_139027.6(ADAMTS13):c.1585-1G>C

SNV
Germline

Chr9:133438245

Likely pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA375393311

rs_1554789680

1 SubmittersRCV000505577

NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)

SNV
Germline

Chr9:133433657

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome
See cases
not specified
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA200927187

rs_145825553

9 SubmittersRCV000520845 RCV001253918 RCV003128409 RCV004701597 RCV005901184

NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)

SNV
Germline

Chr9:133426218

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
not specified
Condition: not provided
ADAMTS13-related disorder

Criteria Provided
Conflicting Classifications

CA200922204

rs_148312697

11 SubmittersRCV000778929 RCV003994114 RCV001507763 RCV004754560

NM_139027.6(ADAMTS13):c.330+1G>A

SNV
Germline

Chr9:133424479

Pathogenic/Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200880306

rs_375415632

2 SubmittersRCV000778876

NM_139027.6(ADAMTS13):c.415-1G>A

SNV
Germline

Chr9:133425937

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA375382440

rs_1554785114

1 SubmittersRCV000826095

NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=)

SNV
Germline

Chr9:133433485

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome
not specified

Criteria Provided
Conflicting Classifications

CA200926970

rs_142570561

4 SubmittersRCV000909420 RCV001168913 RCV004586978

NM_139027.6(ADAMTS13):c.15C>T (p.His5=)

SNV
Germline

Chr9:133422458

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200879008

rs_77985067

2 SubmittersRCV001168075 RCV002559608

NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=)

SNV
Germline

Chr9:133424379

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200880169

rs_367627378

3 SubmittersRCV001168077 RCV003727933

NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys)

SNV
Germline

Chr9:133433441

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200926912

rs_142214608

4 SubmittersRCV001168911 RCV002557458

NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His)

SNV
Germline

Chr9:133433442

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200926915

rs_151048660

6 SubmittersRCV001168912 RCV001859095

NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=)

SNV
Germline

Chr9:133436912

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200929700

rs_782239711

2 SubmittersRCV001166021 RCV002559589

NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=)

SNV
Germline

Chr9:133437750

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200930219

rs_372953477

2 SubmittersRCV001167594 RCV006557073

NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=)

SNV
Germline

Chr9:133440435

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200932529

rs_781945326

2 SubmittersRCV001166071 RCV005093692

NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His)

SNV
Germline

Chr9:133440473

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200932562

rs_138699340

4 SubmittersRCV001166073 RCV004032882 RCV004695084

NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)

SNV
Germline

Chr9:133444987

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
Thrombus
ADAMTS13-related disorder

Criteria Provided
Conflicting Classifications

CA200936055

rs_140639242

7 SubmittersRCV001168295 RCV001356938 RCV002280897 RCV003928768

NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met)

SNV
Germline

Chr9:133449811

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA200940013

rs_141811556

4 SubmittersRCV001166126 RCV002559590 RCV003994226

NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)

SNV
Germline

Chr9:133449865

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome
not specified

Criteria Provided
Conflicting Classifications

CA200940058

rs_36222275

5 SubmittersRCV002119552 RCV003138076 RCV003235673

NM_139027.6(ADAMTS13):c.3400+23C>T

SNV
Germline

Chr9:133455458

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200944151

rs_200547311

2 SubmittersRCV001168361 RCV002559614

NM_139027.6(ADAMTS13):c.3400+32C>T

SNV
Germline

Chr9:133455467

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA860743402

rs_1554795505

2 SubmittersRCV001168362 RCV003769819

NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=)

SNV
Germline

Chr9:133456652

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200945494

rs_782463983

3 SubmittersRCV001166190 RCV003769806

NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=)

SNV
Germline

Chr9:133459081

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA860747440

rs_1393965473

2 SubmittersRCV001166688 RCV003727929

NM_139027.6(ADAMTS13):c.539+6C>T

SNV
Germline

Chr9:133426068

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200921997

rs_782661001

4 SubmittersRCV001165961 RCV005437009 RCV002557422

NM_139027.6(ADAMTS13):c.824+8C>T

SNV
Germline

Chr9:133428779

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200924031

rs_781862563

2 SubmittersRCV001167528 RCV006465522

NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val)

SNV
Germline

Chr9:133425950

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200921838

rs_145175796

5 SubmittersRCV001333529 RCV001507762 RCV004035763

NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile)

SNV
Germline

Chr9:133440367

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided
ADAMTS13-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA200932344

rs_34256013

5 SubmittersRCV001333526 RCV002546637 RCV003426048 RCV005408840

NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln)

SNV
Germline

Chr9:133455319

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200943932

rs_373569027

3 SubmittersRCV001358530 RCV005040211

NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr)

SNV
Germline

Chr9:133442498

Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200933928

rs_374840594

2 SubmittersRCV001507767 RCV005040297

NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)

SNV
Germline

Chr9:133449857

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200940053

rs_142779872

5 SubmittersRCV001507770 RCV003490263 RCV004558626

NM_139027.6(ADAMTS13):c.3400+46G>A

SNV
Germline

Chr9:133455481

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200944174

rs_782472825

3 SubmittersRCV001507774 RCV005040298 RCV005802194

NM_139027.6(ADAMTS13):c.3488G>A (p.Arg1163Gln)

SNV
Germline

Chr9:133456156

Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200944824

rs_782649881

3 SubmittersRCV001508645 RCV005040301

NM_139027.6(ADAMTS13):c.330+2T>C

SNV
Unknown

Chr9:133424480

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA375707325

rs_1474290508

1 SubmittersRCV001536088

NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp)

SNV
Germline

Chr9:133442639

Likely pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

CA375397241

rs_1841759683

1 SubmittersRCV001729960

NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys)

SNV
Germline

Chr9:133448613

Conflicting classifications of pathogenicity

Condition: not provided
ADAMTS13-related disorder
Upshaw-Schulman syndrome
not specified

Criteria Provided
Conflicting Classifications

CA200938991

rs_374444423

6 SubmittersRCV001756677 RCV004754782 RCV005040345 RCV006457479

NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)

SNV
Germline

Chr9:133445774

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Upshaw-Schulman syndrome
Inborn genetic diseases
ADAMTS13-related disorder

Criteria Provided
Conflicting Classifications

CA200936784

rs_147732725

6 SubmittersRCV001767161 RCV001821981 RCV002488544 RCV004040131 RCV004754786

NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys)

SNV
Germline

Chr9:133437805

Likely pathogenic

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA200930293

rs_201457594

3 SubmittersRCV001785886 RCV003728006

NM_139027.6(ADAMTS13):c.3724+1G>A

SNV
Germline

Chr9:133456720

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA375417875

rs_1554796161

1 SubmittersRCV003990476

NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val)

SNV
Germline

Chr9:133443525

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200934894

rs_201607490

5 SubmittersRCV001822224 RCV002541958 RCV005361740

NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr)

SNV
Germline

Chr9:133456150

Pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200944792

rs_200847393

3 SubmittersRCV001843981 RCV005040408

NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp)

SNV
Germline

Chr9:133433473

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA375389474

rs_1840934191

4 SubmittersRCV001918283 RCV004042737 RCV002484427

NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val)

SNV
Germline

Chr9:133455352

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200943993

rs_370060687

3 SubmittersRCV002011031 RCV002492324 RCV005308674

NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter)

SNV
Unknown

Chr9:133422527

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA375706775

rs_2130769073

1 SubmittersRCV002223117

NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys)

SNV
Germline

Chr9:133442438

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome
Inborn genetic diseases
ADAMTS13-related disorder

Criteria Provided
Conflicting Classifications

CA200933870

rs_139214644

5 SubmittersRCV002261880 RCV002488653 RCV004047419 RCV004754870

NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His)

SNV
Germline

Chr9:133442439

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200933871

rs_149953167

4 SubmittersRCV002261881 RCV002488654

NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr)

SNV
Germline

Chr9:133455286

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA375411222

rs_1554795391

1 SubmittersRCV002274487

NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys)

SNV
Germline

Chr9:133433477

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA200926963

rs_376606652

1 SubmittersRCV002274488

NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter)

SNV
Germline

Chr9:133454612

Pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA375410941

rs_2490464967

1 SubmittersRCV002283699

NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)

SNV
Germline

Chr9:133422528

Pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA375706780

rs_1840019690

1 SubmittersRCV002283959

NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)

SNV
Germline

Chr9:133433454

Pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200926932

rs_374655146

2 SubmittersRCV002468903

NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp)

SNV
Germline

Chr9:133438352

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200930791

rs_140628579

3 SubmittersRCV003060484 RCV003138476

NM_139027.6(ADAMTS13):c.703G>T (p.Asp235Tyr)

SNV
Germline

Chr9:133428650

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA375384817

rs_281875337

3 SubmittersRCV003062241 RCV005045191

NM_139027.6(ADAMTS13):c.1477A>C (p.Ser493Arg)

SNV
Germline

Chr9:133437790

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200930266

rs_377220995

4 SubmittersRCV002886503 RCV003167890 RCV005045036

NM_139027.6(ADAMTS13):c.3400G>A (p.Gly1134Ser)

SNV
Germline

Chr9:133455435

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200944106

rs_782311486

4 SubmittersRCV002922155 RCV004587390 RCV005045055 RCV006307259

NM_139027.6(ADAMTS13):c.2254G>A (p.Gly752Ser)

SNV
Germline

Chr9:133443395

Conflicting classifications of pathogenicity

Condition: not provided
ADAMTS13-related disorder
Upshaw-Schulman syndrome
not specified

Criteria Provided
Conflicting Classifications

CA200934693

rs_148734700

6 SubmittersRCV002971749 RCV003961326 RCV005045121 RCV006269736

NM_139027.6(ADAMTS13):c.687-8C>G

SNV
Germline

Chr9:133428626

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200923899

rs_898957135

2 SubmittersRCV002942654 RCV005050665

NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)

SNV
Germline

Chr9:133456566

Conflicting classifications of pathogenicity

Condition: not provided
ADAMTS13-related disorder
Inborn genetic diseases
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200945311

rs_142489534

5 SubmittersRCV002971067 RCV003418672 RCV005542867 RCV005045111

NM_139027.6(ADAMTS13):c.583G>A (p.Val195Ile)

SNV
Germline

Chr9:133426242

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200922231

rs_138489501

2 SubmittersRCV002938976 RCV005045085

NM_139027.6(ADAMTS13):c.58G>A (p.Ala20Thr)

SNV
Germline

Chr9:133422501

Conflicting classifications of pathogenicity

Inborn genetic diseases
Upshaw-Schulman syndrome
not specified

Criteria Provided
Conflicting Classifications

CA200879055

rs_142293909

3 SubmittersRCV002689537 RCV005052022 RCV004801307

NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala)

SNV
Germline

Chr9:133455327

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200943964

rs_944652890

2 SubmittersRCV003148229 RCV005310962

NM_139027.6(ADAMTS13):c.1705+1G>A

SNV
Germline

Chr9:133438367

Likely pathogenic

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA375394024

rs_2491219604

2 SubmittersRCV003225617 RCV003565638

NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys)

SNV
Germline

Chr9:133440478

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA200932571

rs_782547718

1 SubmittersRCV003338169

NM_139027.6(ADAMTS13):c.3158C>T (p.Ala1053Val)

SNV
Germline

Chr9:133454528

Conflicting classifications of pathogenicity

Condition: not provided
ADAMTS13-related disorder
Upshaw-Schulman syndrome
not specified

Criteria Provided
Conflicting Classifications

CA200943158

rs_373530345

4 SubmittersRCV003481948 RCV003966450 RCV005047626 RCV005419638

NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)

SNV
Germline

Chr9:133424453

Likely pathogenic

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA200880293

rs_782716712

3 SubmittersRCV003480480 RCV005047630

NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)

SNV
Germline

Chr9:133433394

Conflicting classifications of pathogenicity

Condition: not provided
ADAMTS13-related disorder
not specified
Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200926852

rs_200406381

6 SubmittersRCV003545210 RCV003966462 RCV004526262 RCV005051323 RCV005323464

NM_139027.6(ADAMTS13):c.4006G>A (p.Glu1336Lys)

SNV
Germline

Chr9:133459070

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200947645

rs_782604159

3 SubmittersRCV003843656 RCV005040557 RCV004366927

NM_139027.6(ADAMTS13):c.3714C>T (p.Thr1238=)

SNV
Germline

Chr9:133456709

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA2692367644

rs_2490512531

2 SubmittersRCV003859341 RCV005040576

NM_139027.6(ADAMTS13):c.270C>T (p.Pro90=)

SNV
Germline

Chr9:133424418

Conflicting classifications of pathogenicity

Condition: not provided
Upshaw-Schulman syndrome
not specified

Criteria Provided
Conflicting Classifications

CA200880262

rs_756898709

3 SubmittersRCV003861087 RCV005040583 RCV005433483

NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg)

SNV
Germline

Chr9:133456215

Pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

CA375415780

rs_2490499610

1 SubmittersRCV003990403

NM_139027.6(ADAMTS13):c.3892A>G (p.Asn1298Asp)

SNV
Germline

Chr9:133458077

Conflicting classifications of pathogenicity

Inborn genetic diseases
Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

CA200946909

rs_782109481

2 SubmittersRCV004444464 RCV005358102

NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter)

SNV
Germline

Chr9:133456652

Likely pathogenic

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA200945493

rs_782463983

2 SubmittersRCV004545919 RCV004791691

NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)

SNV
Germline

Chr9:133428672

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome

Criteria Provided
Conflicting Classifications

rs_2491101006

2 SubmittersRCV004594808

NM_139027.6(ADAMTS13):c.919G>A (p.Ala307Thr)

SNV
Germline

Chr9:133430033

Conflicting classifications of pathogenicity

Inborn genetic diseases
Upshaw-Schulman syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

5 SubmittersRCV004607509 RCV005040714 RCV005102135 RCV005407323

NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter)

SNV
Germline

Chr9:133449786

Pathogenic

Upshaw-Schulman syndrome

No Assertion Criteria Provided

1 SubmittersRCV004765392

NM_139027.6(ADAMTS13):c.1054G>A (p.Val352Ile)

SNV
Germline

Chr9:133432654

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005040830 RCV004967751

NM_139027.6(ADAMTS13):c.3400+33G>A

SNV
Germline

Chr9:133455468

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005046022 RCV005545216

NM_139027.6(ADAMTS13):c.232G>A (p.Gly78Ser)

SNV
Germline

Chr9:133424380

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005048954 RCV006307571

NM_139027.6(ADAMTS13):c.280C>T (p.Gln94Ter)

SNV
Germline

Chr9:133424428

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005045933

NM_139027.6(ADAMTS13):c.1436-7C>G

SNV
Germline

Chr9:133437742

Conflicting classifications of pathogenicity

Upshaw-Schulman syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005048964 RCV006444341

NM_139027.6(ADAMTS13):c.1787-1G>A

SNV
Germline

Chr9:133440343

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005045978

NM_139027.6(ADAMTS13):c.2173C>T (p.Gln725Ter)

SNV
Germline

Chr9:133442682

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005045992

NM_139027.6(ADAMTS13):c.2237G>A (p.Trp746Ter)

SNV
Germline

Chr9:133443378

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005045994

NM_139027.6(ADAMTS13):c.3469T>C (p.Cys1157Arg)

SNV
Germline

Chr9:133456137

Likely pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005403801

NM_139027.6(ADAMTS13):c.2153T>A (p.Leu718Ter)

SNV
Germline

Chr9:133442662

Pathogenic

Upshaw-Schulman syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005403806