ClinVar for MedGen (Select 224783) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25855521.	NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys) GRCh37: Chr9:136305599 GRCh38: Chr9:133440478	ADAMTS13	E641K, E610K, E313K	Upshaw-Schulman syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25007052.	NM_139027.6(ADAMTS13):c.1705+1G>A GRCh37: Chr9:136303487 GRCh38: Chr9:133438367	ADAMTS13		Upshaw-Schulman syndrome	Likely pathogenic (May 7, 2021)	criteria provided, single submitter
Select item 24419143.	NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala) GRCh37: Chr9:136320449 GRCh38: Chr9:133455327	ADAMTS13	T1067A, T1098A	Upshaw-Schulman syndrome	Uncertain significance (Mar 18, 2021)	criteria provided, single submitter
Select item 21418874.	NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp) GRCh37: Chr9:136303472 GRCh38: Chr9:133438352	ADAMTS13	A564D, A236D, A533D	not provided, Upshaw-Schulman syndrome	Conflicting interpretations of pathogenicity (Mar 5, 2022)	criteria provided, conflicting interpretations
Select item 18041655.	NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter) GRCh37: Chr9:136298574 GRCh38: Chr9:133433454	ADAMTS13	W359, W390, W62*	Upshaw-Schulman syndrome	Pathogenic (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18032836.	NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp) GRCh37: Chr9:136308555 GRCh38: Chr9:133443434	ADAMTS13	R734W, R765W	Upshaw-Schulman syndrome	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 17084587.	NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln) GRCh37: Chr9:136321210 GRCh38: Chr9:133456088	ADAMTS13	H1109Q, H1140Q, H1196Q	Upshaw-Schulman syndrome, not provided, Stroke	Uncertain significance (Feb 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17056458.	NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter) GRCh37: Chr9:136287648 GRCh38: Chr9:133422528	ADAMTS13	G29*	Upshaw-Schulman syndrome	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 17053859.	NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter) GRCh37: Chr9:136319734 GRCh38: Chr9:133454612	ADAMTS13	W1050, W1081	Upshaw-Schulman syndrome	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170023910.	NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys) GRCh37: Chr9:136298597 GRCh38: Chr9:133433477	ADAMTS13	R367C, R398C	Upshaw-Schulman syndrome	Likely pathogenic	criteria provided, single submitter
Select item 170023811.	NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr) GRCh37: Chr9:136320408 GRCh38: Chr9:133455286	ADAMTS13	C1053Y, C1084Y	Upshaw-Schulman syndrome	Likely pathogenic	criteria provided, single submitter
Select item 169401412.	NM_139027.6(ADAMTS13):c.3400+93C>T GRCh37: Chr9:136320650 GRCh38: Chr9:133455528	ADAMTS13	R1165W	not provided, Upshaw-Schulman syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169401213.	NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His) GRCh37: Chr9:136307560 GRCh38: Chr9:133442439	ADAMTS13	R639H, R670H	not provided, Upshaw-Schulman syndrome	Uncertain significance (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169401114.	NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys) GRCh37: Chr9:136307559 GRCh38: Chr9:133442438	ADAMTS13	R639C, R670C	not provided, Upshaw-Schulman syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167726615.	NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter) GRCh37: Chr9:136287647 GRCh38: Chr9:133422527	ADAMTS13	W28*	Upshaw-Schulman syndrome	Likely pathogenic	criteria provided, single submitter
Select item 166500216.	NM_139027.6(ADAMTS13):c.1309-20C>G GRCh37: Chr9:136301929 GRCh38: Chr9:133436809	ADAMTS13		not provided, Upshaw-Schulman syndrome	Likely benign (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163070017.	NM_139027.6(ADAMTS13):c.1786+16G>A GRCh37: Chr9:136304583 GRCh38: Chr9:133439462	ADAMTS13		not provided, Upshaw-Schulman syndrome	Benign/Likely benign (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159007518.	NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg) GRCh37: Chr9:136314986 GRCh38: Chr9:133449865	ADAMTS13	G951R, G982R	not specified, Upshaw-Schulman syndrome, not provided	Conflicting interpretations of pathogenicity (May 26, 2023)	criteria provided, conflicting interpretations
Select item 158987019.	NM_139027.6(ADAMTS13):c.1705+14C>T GRCh37: Chr9:136303500 GRCh38: Chr9:133438380	ADAMTS13		Upshaw-Schulman syndrome, not provided	Benign/Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150258020.	NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val) GRCh37: Chr9:136320474 GRCh38: Chr9:133455352	ADAMTS13	A1075V, A1106V	not provided, Upshaw-Schulman syndrome	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140713121.	NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) GRCh37: Chr9:136298593 GRCh38: Chr9:133433473	ADAMTS13	C365W, C396W	not provided, Upshaw-Schulman syndrome	Uncertain significance (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132385322.	NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) GRCh37: Chr9:136302925 GRCh38: Chr9:133437805	ADAMTS13	R467C, R498C	Upshaw-Schulman syndrome	Likely pathogenic (Sep 27, 2019)	criteria provided, single submitter
Select item 130620823.	NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) GRCh37: Chr9:136310895 GRCh38: Chr9:133445774	ADAMTS13	V865M, V896M	not provided, not specified, Upshaw-Schulman syndrome	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122052724.	NM_139027.6(ADAMTS13):c.1335_1336del (p.Met446fs) GRCh37: Chr9:136301975-136301976 GRCh38: Chr9:133436855-133436856	ADAMTS13	M415fs, M446fs	Upshaw-Schulman syndrome	Likely pathogenic (Aug 14, 2021)	no assertion criteria provided
Select item 122052625.	NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp) GRCh37: Chr9:136307760 GRCh38: Chr9:133442639	ADAMTS13	C679W, C710W	Upshaw-Schulman syndrome	Likely pathogenic (Aug 14, 2021)	no assertion criteria provided
Select item 117918726.	NM_139027.6(ADAMTS13):c.330+2T>C GRCh37: Chr9:136289600 GRCh38: Chr9:133424480	ADAMTS13		Upshaw-Schulman syndrome	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 116351127.	NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys) GRCh37: Chr9:136321221 GRCh38: Chr9:133456099	ADAMTS13	T1113K, T1144K, T1200K	not provided, Inborn genetic diseases, Upshaw-Schulman syndrome	Uncertain significance (Feb 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105024528.	NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln) GRCh37: Chr9:136323146 GRCh38: Chr9:133458024	ADAMTS13	R1249Q, R1280Q, R1336Q	not specified, Upshaw-Schulman syndrome	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103163529.	NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val) GRCh37: Chr9:136291070 GRCh38: Chr9:133425950	ADAMTS13	I143V	not provided, Upshaw-Schulman syndrome	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 103163230.	NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile) GRCh37: Chr9:136305488 GRCh38: Chr9:133440367	ADAMTS13	V573I, V604I	ADAMTS13-related condition, Upshaw-Schulman syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 91629631.	NM_139027.6(ADAMTS13):c.3449G>A (p.Arg1150Gln) GRCh37: Chr9:136321239 GRCh38: Chr9:133456117	ADAMTS13	R1150Q, R1119Q, R1206Q	Upshaw-Schulman syndrome, not provided	Uncertain significance (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91477632.	NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val) GRCh37: Chr9:136321335 GRCh38: Chr9:133456213	ADAMTS13	A1151V, A1238V, A1182V	Upshaw-Schulman syndrome, not provided	Uncertain significance (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91477533.	NM_139027.6(ADAMTS13):c.3522T>A (p.Leu1174=) GRCh37: Chr9:136321312 GRCh38: Chr9:133456190	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91477434.	NM_139027.6(ADAMTS13):c.3517G>A (p.Val1173Ile) GRCh37: Chr9:136321307 GRCh38: Chr9:133456185	ADAMTS13	V1142I, V1173I, V1229I	Upshaw-Schulman syndrome	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91477335.	NM_139027.6(ADAMTS13):c.3400+136T>A GRCh37: Chr9:136320693 GRCh38: Chr9:133455571	ADAMTS13	L1179Q	Upshaw-Schulman syndrome	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91471736.	NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln) GRCh37: Chr9:136313849 GRCh38: Chr9:133448728	ADAMTS13	R954Q, R923Q	Upshaw-Schulman syndrome, not provided	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91471637.	NM_139027.6(ADAMTS13):c.2827C>T (p.Arg943Trp) GRCh37: Chr9:136313815 GRCh38: Chr9:133448694	ADAMTS13	R943W, R912W	Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91468238.	NM_139027.6(ADAMTS13):c.1831A>G (p.Ile611Val) GRCh37: Chr9:136305509 GRCh38: Chr9:133440388	ADAMTS13	I580V, I611V	Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91464239.	NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His) GRCh37: Chr9:136298562 GRCh38: Chr9:133433442	ADAMTS13	R355H, R386H	Upshaw-Schulman syndrome, not provided	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91464140.	NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys) GRCh37: Chr9:136298561 GRCh38: Chr9:133433441	ADAMTS13	R386C, R355C	Upshaw-Schulman syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 91460341.	NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp) GRCh37: Chr9:136290691 GRCh38: Chr9:133425571	ADAMTS13	R125W	Upshaw-Schulman syndrome	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91431342.	NM_139027.6(ADAMTS13):c.*168C>T GRCh37: Chr9:136324470 GRCh38: Chr9:133459348	ADAMTS13		Upshaw-Schulman syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91427643.	NM_139027.6(ADAMTS13):c.3400+32C>T GRCh37: Chr9:136320589 GRCh38: Chr9:133455467	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91427544.	NM_139027.6(ADAMTS13):c.3400+23C>T GRCh37: Chr9:136320580 GRCh38: Chr9:133455458	ADAMTS13		Upshaw-Schulman syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 91427445.	NM_139027.6(ADAMTS13):c.3400+19C>T GRCh37: Chr9:136320576 GRCh38: Chr9:133455454	ADAMTS13	P1140L	Upshaw-Schulman syndrome, not provided	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91427346.	NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln) GRCh37: Chr9:136319671 GRCh38: Chr9:133454549	ADAMTS13	R1029Q, R1060Q	Upshaw-Schulman syndrome, not provided	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91423347.	NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile) GRCh37: Chr9:136310108 GRCh38: Chr9:133444987	ADAMTS13	V849I, V818I	Thrombus, not provided, Upshaw-Schulman syndrome	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 91423248.	NM_139027.6(ADAMTS13):c.2509G>A (p.Gly837Ser) GRCh37: Chr9:136310072 GRCh38: Chr9:133444951	ADAMTS13	G837S, G806S	Upshaw-Schulman syndrome	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91423149.	NM_139027.6(ADAMTS13):c.2365G>A (p.Ala789Thr) GRCh37: Chr9:136308627 GRCh38: Chr9:133443506	ADAMTS13	A758T, A789T	Upshaw-Schulman syndrome	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91418150.	NM_139027.6(ADAMTS13):c.1787-8C>G GRCh37: Chr9:136305457 GRCh38: Chr9:133440336	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91418051.	NM_139027.6(ADAMTS13):c.1706-3T>A GRCh37: Chr9:136304484 GRCh38: Chr9:133439363	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91417952.	NM_139027.6(ADAMTS13):c.1706-4C>T GRCh37: Chr9:136304483 GRCh38: Chr9:133439362	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91413853.	NM_139027.6(ADAMTS13):c.905G>A (p.Gly302Asp) GRCh37: Chr9:136295139 GRCh38: Chr9:133430019	ADAMTS13	G302D	Upshaw-Schulman syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91409154.	NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=) GRCh37: Chr9:136289499 GRCh38: Chr9:133424379	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91409055.	NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met) GRCh37: Chr9:136288251 GRCh38: Chr9:133423131	ADAMTS13	V46M	Inborn genetic diseases, not specified, Upshaw-Schulman syndrome	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91408956.	NM_139027.6(ADAMTS13):c.15C>T (p.His5=) GRCh37: Chr9:136287578 GRCh38: Chr9:133422458	ADAMTS13		not provided, Upshaw-Schulman syndrome	Conflicting interpretations of pathogenicity (May 18, 2022)	criteria provided, conflicting interpretations
Select item 91378657.	NM_139027.6(ADAMTS13):c.1518C>A (p.Thr506=) GRCh37: Chr9:136302951 GRCh38: Chr9:133437831	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91378558.	NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=) GRCh37: Chr9:136302870 GRCh38: Chr9:133437750	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91374059.	NM_139027.6(ADAMTS13):c.824+8C>T GRCh37: Chr9:136293899 GRCh38: Chr9:133428779	ADAMTS13, LOC130002910		Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91373960.	NM_139027.6(ADAMTS13):c.816C>G (p.Ser272Arg) GRCh37: Chr9:136293883 GRCh38: Chr9:133428763	ADAMTS13, LOC130002910	S272R	Upshaw-Schulman syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91373861.	NM_139027.6(ADAMTS13):c.715G>A (p.Gly239Ser) GRCh37: Chr9:136293782 GRCh38: Chr9:133428662	ADAMTS13	G239S	Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91369462.	NM_139027.6(ADAMTS13):c.-26C>T GRCh37: Chr9:136287538 GRCh38: Chr9:133422418	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91369363.	NM_139025.4(ADAMTS13):c.-168C>T GRCh37: Chr9:136287396 GRCh38: Chr9:133422276	ADAMTS13		Upshaw-Schulman syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91318164.	NM_139027.6(ADAMTS13):c.*77C>T GRCh37: Chr9:136324379 GRCh38: Chr9:133459257	ADAMTS13		Upshaw-Schulman syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91318065.	NM_139027.6(ADAMTS13):c.*41G>A GRCh37: Chr9:136324343 GRCh38: Chr9:133459221	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91317966.	NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn) GRCh37: Chr9:136324206 GRCh38: Chr9:133459084	ADAMTS13	K1309N, K1396N, K1340N	not provided, Upshaw-Schulman syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91317867.	NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=) GRCh37: Chr9:136324203 GRCh38: Chr9:133459081	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91317768.	NM_139027.6(ADAMTS13):c.3956A>G (p.Gln1319Arg) GRCh37: Chr9:136324142 GRCh38: Chr9:133459020	ADAMTS13	Q1288R, Q1319R, Q1375R	Upshaw-Schulman syndrome	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 91317669.	NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser) GRCh37: Chr9:136323101 GRCh38: Chr9:133457979	ADAMTS13	N1234S, N1265S, N1321S	Upshaw-Schulman syndrome	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91312870.	NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val) GRCh37: Chr9:136319659 GRCh38: Chr9:133454537	ADAMTS13	A1025V, A1056V	not provided, Upshaw-Schulman syndrome	Uncertain significance (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91281671.	NM_139027.6(ADAMTS13):c.3788C>T (p.Thr1263Met) GRCh37: Chr9:136323095 GRCh38: Chr9:133457973	ADAMTS13	T1232M, T1263M, T1319M	not provided, Upshaw-Schulman syndrome	Uncertain significance (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91281572.	NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=) GRCh37: Chr9:136321774 GRCh38: Chr9:133456652	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Aug 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91281473.	NM_139027.6(ADAMTS13):c.3573G>C (p.Arg1191=) GRCh37: Chr9:136321690 GRCh38: Chr9:133456568	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91276874.	NM_139027.6(ADAMTS13):c.2912T>C (p.Val971Ala) GRCh37: Chr9:136314954 GRCh38: Chr9:133449833	ADAMTS13	V940A, V971A	Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91276775.	NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met) GRCh37: Chr9:136314932 GRCh38: Chr9:133449811	ADAMTS13	V933M, V964M	not provided, Upshaw-Schulman syndrome	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 91272076.	NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met) GRCh37: Chr9:136307640 GRCh38: Chr9:133442519	ADAMTS13	V666M, V697M	Upshaw-Schulman syndrome	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91271977.	NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His) GRCh37: Chr9:136305594 GRCh38: Chr9:133440473	ADAMTS13	R639H, R608H	Upshaw-Schulman syndrome	Uncertain significance (Mar 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91271878.	NM_139027.6(ADAMTS13):c.1911G>T (p.Leu637=) GRCh37: Chr9:136305589 GRCh38: Chr9:133440468	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91271779.	NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=) GRCh37: Chr9:136305556 GRCh38: Chr9:133440435	ADAMTS13		Upshaw-Schulman syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91267980.	NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=) GRCh37: Chr9:136302032 GRCh38: Chr9:133436912	ADAMTS13		not provided, Upshaw-Schulman syndrome	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 91263881.	NM_139027.6(ADAMTS13):c.546C>T (p.Asp182=) GRCh37: Chr9:136291325 GRCh38: Chr9:133426205	ADAMTS13		not provided, Upshaw-Schulman syndrome	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91263782.	NM_139027.6(ADAMTS13):c.539+6C>T GRCh37: Chr9:136291188 GRCh38: Chr9:133426068	ADAMTS13		not provided, Upshaw-Schulman syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80253183.	NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs) GRCh37: Chr9:136314904-136314905 GRCh38: Chr9:133449783-133449784	ADAMTS13	W955fs, W924fs	Upshaw-Schulman syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 77391584.	NM_139027.6(ADAMTS13):c.1705+7G>A GRCh37: Chr9:136303493 GRCh38: Chr9:133438373	ADAMTS13		not provided, Upshaw-Schulman syndrome	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76833385.	NM_139027.6(ADAMTS13):c.2494G>A (p.Val832Met) GRCh37: Chr9:136310057 GRCh38: Chr9:133444936	ADAMTS13	V832M, V801M	Upshaw-Schulman syndrome, not specified, not provided	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74140986.	NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=) GRCh37: Chr9:136298806 GRCh38: Chr9:133433686	ADAMTS13		Upshaw-Schulman syndrome, not provided	Likely benign (Jul 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73404787.	NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=) GRCh37: Chr9:136298605 GRCh38: Chr9:133433485	ADAMTS13		not provided, Upshaw-Schulman syndrome	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 73172788.	NM_139027.6(ADAMTS13):c.3400+45C>T GRCh37: Chr9:136320602 GRCh38: Chr9:133455480	ADAMTS13	R1149W	not provided, Upshaw-Schulman syndrome	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72876889.	NM_139027.6(ADAMTS13):c.3509C>T (p.Thr1170Ile) GRCh37: Chr9:136321299 GRCh38: Chr9:133456177	ADAMTS13	T1226I, T1139I, T1170I	not specified, not provided, Upshaw-Schulman syndrome	Benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71444490.	NM_139027.6(ADAMTS13):c.1022C>T (p.Pro341Leu) GRCh37: Chr9:136297743 GRCh38: Chr9:133432622	ADAMTS13	P310L, P341L	not provided, Upshaw-Schulman syndrome	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70997491.	NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) GRCh37: Chr9:136291143 GRCh38: Chr9:133426023	ADAMTS13	T167M	not specified, not provided, Upshaw-Schulman syndrome	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66736492.	NM_139027.6(ADAMTS13):c.415-1G>A GRCh37: Chr9:136291057 GRCh38: Chr9:133425937	ADAMTS13		Upshaw-Schulman syndrome	Likely pathogenic (Feb 20, 2018)	criteria provided, single submitter
Select item 63207493.	NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) GRCh37: Chr9:136291338 GRCh38: Chr9:133426218	ADAMTS13	D187H	Upshaw-Schulman syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 63203794.	NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile) GRCh37: Chr9:136291103 GRCh38: Chr9:133425983	ADAMTS13	V154I	Upshaw-Schulman syndrome	Uncertain significance (Dec 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63203695.	NM_139027.6(ADAMTS13):c.330+1G>A GRCh37: Chr9:136289599 GRCh38: Chr9:133424479	ADAMTS13		Upshaw-Schulman syndrome	Likely pathogenic (Oct 30, 2018)	criteria provided, single submitter
Select item 55957796.	NM_139027.6(ADAMTS13):c.3400+141G>A GRCh37: Chr9:136320698 GRCh38: Chr9:133455576	ADAMTS13	G1181R	not provided, Upshaw-Schulman syndrome	Benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49804797.	NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr) GRCh37: Chr9:136305519 GRCh38: Chr9:133440398	ADAMTS13	N614T, N583T	Upshaw-Schulman syndrome, not provided, Inborn genetic diseases	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45099498.	NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys) GRCh37: Chr9:136298777 GRCh38: Chr9:133433657	ADAMTS13	R421C, R390C	Upshaw-Schulman syndrome, See cases, not provided	Conflicting interpretations of pathogenicity (Jan 20, 2023)	criteria provided, conflicting interpretations
Select item 43866399.	NM_139027.6(ADAMTS13):c.1585-1G>C GRCh37: Chr9:136303365 GRCh38: Chr9:133438245	ADAMTS13		Upshaw-Schulman syndrome	Likely pathogenic (Apr 20, 2017)	no assertion criteria provided
Select item 438662100.	NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del) GRCh37: Chr9:136324118-136324234 GRCh38: Chr9:133458996-133459112	ADAMTS13		Upshaw-Schulman syndrome	Likely pathogenic (Apr 20, 2017)	no assertion criteria provided

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