Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)	SNV Germline	Chr7:74056680	Pathogenic	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Multiple Submitters No Conflicts	CA281025	rs_137854452	5 SubmittersRCV000255419 RCV000018206
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)	SNV Germline	Chr7:74043901	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter	CA281040	rs_137854454	2 SubmittersRCV000018215
NM_000501.4(ELN):c.526A>T (p.Lys176Ter)	SNV Germline	Chr7:74045278	Pathogenic	Supravalvar aortic stenosis	No Assertion Criteria Provided	CA281042	rs_137854455	1 SubmittersRCV000018216
NM_000501.4(ELN):c.1858+5G>C	SNV Germline	Chr7:74063229	Pathogenic	Supravalvar aortic stenosis	No Assertion Criteria Provided		rs_1554686162	1 SubmittersRCV000022536
NM_000501.4(ELN):c.800-3C>G	SNV Germline	Chr7:74051747	Pathogenic	Condition: not provided Supravalvar aortic stenosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA281109	rs_397516433	5 SubmittersRCV000199556 RCV000036528 RCV000624154
NM_000501.4(ELN):c.800-2A>G	SNV Germline	Chr7:74051748	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Multiple Submitters No Conflicts	CA281471	rs_727503027	3 SubmittersRCV000150636
NM_000501.4(ELN):c.1097-1G>A	SNV Germline	Chr7:74054715	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter	CA281473	rs_727503029	1 SubmittersRCV000150638
NM_000501.4(ELN):c.1150+1G>A	SNV Germline	Chr7:74054770	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Condition: not provided Hypertelorism Dural ectasia Venous malformation Abnormal digit morphology Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis not specified	Criteria Provided Conflicting Classifications	CA281474	rs_727503030	9 SubmittersRCV000150639 RCV000200273 RCV000626794 RCV000660643 RCV002247549
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter)	SNV Germline	Chr7:74061138	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter	CA281478	rs_727503033	1 SubmittersRCV000150644
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)	SNV Germline	Chr7:74063224	Pathogenic/Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Multiple Submitters No Conflicts	CA281480	rs_727503034	2 SubmittersRCV000150645
NM_000501.4(ELN):c.1918+1G>A	SNV Germline	Chr7:74063370	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter	CA281482	rs_727503035	1 SubmittersRCV000150646
NM_000501.4(ELN):c.889+2T>C	SNV Germline	Chr7:74051841	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter	CA281483	rs_727504419	1 SubmittersRCV000154614
NM_000501.4(ELN):c.890-2A>G	SNV Germline	Chr7:74051922	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter	CA281485	rs_727504434	1 SubmittersRCV000154673
NM_000501.4(ELN):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:74028189	Pathogenic/Likely pathogenic	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Multiple Submitters No Conflicts	CA319968	rs_863223518	3 SubmittersRCV000195606 RCV000627831
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)	SNV Germline	Chr7:74042984	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA320313	rs_145519139	3 SubmittersRCV000462325 RCV000272510 RCV001531043
NM_000501.4(ELN):c.647G>T (p.Gly216Val)	SNV Germline	Chr7:74047678	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Condition: not provided Cutis laxa, autosomal dominant 1 Williams syndrome Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications	CA324493	rs_145612009	6 SubmittersRCV000531891 RCV000728083 RCV000765972 RCV001161674
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)	SNV Germline	Chr7:74047690	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA322484	rs_201012726	4 SubmittersRCV000198008 RCV000279620 RCV000334634
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)	SNV Germline	Chr7:74056402	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Multiple Submitters No Conflicts		rs_200862792	2 SubmittersRCV001171311
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)	SNV Germline	Chr7:74065699	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications	CA321710	rs_142316834	8 SubmittersRCV000351619 RCV000405378 RCV001579602 RCV004530153
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)	SNV Germline	Chr7:74043901	Pathogenic	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Multiple Submitters No Conflicts	CA10588434	rs_137854454	2 SubmittersRCV000255722 RCV002518760
NM_000501.4(ELN):c.470-10C>G	SNV Germline	Chr7:74045212	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4292514	rs_200663056	4 SubmittersRCV000338429 RCV000408115 RCV000725265
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)	SNV Germline	Chr7:74042986	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided Familial atrioventricular septal defect ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292446	rs_137953195	6 SubmittersRCV000327769 RCV000382394 RCV000492857 RCV000984480 RCV004530459
NM_000501.4(ELN):c.861G>A (p.Gly287=)	SNV Germline	Chr7:74051811	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292726	rs_368610108	7 SubmittersRCV000313561 RCV000471889 RCV001579470 RCV004530460
NM_000501.4(ELN):c.1281C>T (p.Pro427=)	SNV Germline	Chr7:74056401	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292915	rs_376496267	2 SubmittersRCV000291392 RCV000385690
NM_000501.4(ELN):c.163+13A>G	SNV Germline	Chr7:74036597	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292322	rs_782388951	2 SubmittersRCV000260411 RCV000355248
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)	SNV Germline	Chr7:74063191	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4293244	rs_200133966	4 SubmittersRCV000285328 RCV000381857 RCV001556564 RCV004022054
NM_000501.4(ELN):c.930C>T (p.Ala310=)	SNV Germline	Chr7:74051964	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292767	rs_147367888	5 SubmittersRCV000269825 RCV000324956 RCV000659073 RCV004544695
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)	SNV Germline	Chr7:74056354	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4292902	rs_375116795	3 SubmittersRCV000305970 RCV000360713 RCV001551670
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)	SNV Germline	Chr7:74063312	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications	CA4293267	rs_150404125	8 SubmittersRCV000281338 RCV000338747 RCV001579838 RCV004544696
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)	SNV Germline	Chr7:74065988	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4293372	rs_369804770	3 SubmittersRCV000311994 RCV000369053 RCV000443075
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	SNV Germline	Chr7:74063360	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome ELN-related disorder	Criteria Provided Conflicting Classifications	CA4293282	rs_536177240	4 SubmittersRCV000298998 RCV000407993 RCV001198806 RCV004544697
NM_000501.4(ELN):c.232+3G>A	SNV Germline	Chr7:74041254	Conflicting classifications of pathogenicity	not specified Condition: not provided Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications	CA4292385	rs_377172364	7 SubmittersRCV000444452 RCV000998804 RCV001055635 RCV001163092
NM_000501.4(ELN):c.164-2A>C	SNV Germline	Chr7:74037705	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292350	rs_782096458	3 SubmittersRCV000430802 RCV001210534 RCV004539797
NM_000501.4(ELN):c.594G>A (p.Pro198=)	SNV Germline	Chr7:74046718	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292586	rs_140337204	2 SubmittersRCV000418810 RCV001078474
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)	SNV Germline	Chr7:74060008	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 1 Inborn genetic diseases Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4293089	rs_372788076	4 SubmittersRCV000478684 RCV002470874 RCV002526957 RCV002525947
NM_000501.4(ELN):c.1358-198G>A	SNV Germline	Chr7:74057442	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis not specified	Criteria Provided Conflicting Classifications	CA4292991	rs_192461213	5 SubmittersRCV000512804 RCV002524034 RCV003323569
NM_000501.4(ELN):c.460G>A (p.Val154Met)	SNV Germline	Chr7:74043911	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 ELN-related disorder	Criteria Provided Conflicting Classifications	CA4292496	rs_145669576	5 SubmittersRCV000522898 RCV001158464 RCV001158465 RCV004541630
NM_000501.4(ELN):c.473C>T (p.Ala158Val)	SNV Germline	Chr7:74045225	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 1 Inborn genetic diseases Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292521	rs_201137255	4 SubmittersRCV000521003 RCV001161669 RCV002525163 RCV001161668
NM_000501.4(ELN):c.159A>T (p.Gly53=)	SNV Germline	Chr7:74036580	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications	CA4292321	rs_200810494	2 SubmittersRCV000551473 RCV003320668
NM_000501.4(ELN):c.634A>T (p.Lys212Ter)	SNV Germline	Chr7:74046758	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter	CA367870326	rs_1554672587	1 SubmittersRCV000614385
NM_000501.4(ELN):c.376+5G>A	SNV Germline	Chr7:74043039	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292457	rs_782770862	2 SubmittersRCV001719016 RCV003105993
NM_000501.4(ELN):c.1149C>T (p.Tyr383=)	SNV Germline	Chr7:74054768	Conflicting classifications of pathogenicity	not specified Condition: not provided Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292859	rs_199621188	6 SubmittersRCV000601297 RCV001579786 RCV001855234
NM_000501.4(ELN):c.133+5C>T	SNV Germline	Chr7:74035419	Conflicting classifications of pathogenicity	not specified Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications	CA4292266	rs_375144839	2 SubmittersRCV000600020 RCV001855233
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	SNV Germline	Chr7:74060429	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome Condition: not provided Inborn genetic diseases ELN-related disorder	Criteria Provided Conflicting Classifications	CA4293156	rs_560081099	5 SubmittersRCV000627827 RCV000765973 RCV000762455 RCV002533162 RCV004533301
NM_000501.4(ELN):c.944A>G (p.Lys315Arg)	SNV Germline	Chr7:74051978	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter	CA367871485	rs_1554676454	1 SubmittersRCV000627826
NM_000501.4(ELN):c.1358-192C>T	SNV Germline	Chr7:74057448	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis See cases	Criteria Provided Conflicting Classifications	CA4292993	rs_185060213	2 SubmittersRCV000627829 RCV002252183
NM_000501.4(ELN):c.1994-2A>C	SNV Germline	Chr7:74065692	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_1440841207	2 SubmittersRCV000658277 RCV001067661
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)	SNV Germline	Chr7:74048146	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_1400530335	1 SubmittersRCV000705833
NM_000501.4(ELN):c.767C>T (p.Ala256Val)	SNV Germline	Chr7:74048524	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications		rs_782285456	2 SubmittersRCV000693591 RCV001165287
NM_000501.4(ELN):c.18G>A (p.Ala6=)	SNV Germline	Chr7:74028205	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis ELN-related disorder	Criteria Provided Conflicting Classifications		rs_542540015	2 SubmittersRCV000688653 RCV004535711
NM_000501.4(ELN):c.1622-6C>T	SNV Germline	Chr7:74060370	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis ELN-related disorder	Criteria Provided Conflicting Classifications		rs_1280128851	3 SubmittersRCV000788371 RCV003631163 RCV004535918
NM_000501.4(ELN):c.163+2T>C	SNV Germline	Chr7:74036586	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_1584494326	1 SubmittersRCV000808443
NM_000501.4(ELN):c.686-1G>A	SNV Germline	Chr7:74048141	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_1583818183	1 SubmittersRCV000798399
NM_000501.4(ELN):c.1322C>T (p.Ala441Val)	SNV Germline	Chr7:74056678	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200444292	3 SubmittersRCV000841035 RCV001088619 RCV002538303
NM_000501.4(ELN):c.1622-14C>T	SNV Germline	Chr7:74060362	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_782637446	2 SubmittersRCV000838700 RCV001858431
NM_000501.4(ELN):c.1884C>T (p.Ala628=)	SNV Germline	Chr7:74063335	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_372315353	5 SubmittersRCV000862558 RCV001336345 RCV001593073
NM_000501.4(ELN):c.1994-7T>G	SNV Germline	Chr7:74065687	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications		rs_375277198	4 SubmittersRCV000863362 RCV001158791 RCV001571307 RCV004540172
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)	SNV Germline	Chr7:74042659	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_181019457	3 SubmittersRCV000865974 RCV001165177 RCV003279129
NM_000501.4(ELN):c.1358-225T>C	SNV Germline	Chr7:74057415	Conflicting classifications of pathogenicity	ELN-related disorder Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_375867140	3 SubmittersRCV004538278 RCV002539015 RCV000868785
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)	SNV Germline	Chr7:74043132	Pathogenic	Supravalvar aortic stenosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1791626037	2 SubmittersRCV001057403 RCV001567502
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	SNV Germline	Chr7:74054768	Pathogenic/Likely pathogenic	Supravalvar aortic stenosis Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_199621188	2 SubmittersRCV001036361 RCV002489542
NM_000501.4(ELN):c.542-2A>T	SNV Germline	Chr7:74046186	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_782528759	1 SubmittersRCV001037783
NM_000501.4(ELN):c.1919-1G>A	SNV Germline	Chr7:74063620	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_1797218441	1 SubmittersRCV001062655
NM_000501.4(ELN):c.1576+1G>A	SNV Germline	Chr7:74060048	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_782674700	1 SubmittersRCV001064599
NM_000501.4(ELN):c.1621+1G>A	SNV Germline	Chr7:74060185	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications		rs_782279081	3 SubmittersRCV001053533 RCV001281373 RCV003106105
NM_000501.4(ELN):c.35G>T (p.Gly12Val)	SNV Germline	Chr7:74028222	Conflicting classifications of pathogenicity	Condition: not provided Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Williams syndrome	Criteria Provided Conflicting Classifications		rs_367634266	5 SubmittersRCV001093392 RCV001158353 RCV001161558 RCV002505673
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)	SNV Germline	Chr7:74045230	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications		rs_781857513	2 SubmittersRCV001161670 RCV001161671
NM_000501.4(ELN):c.483C>A (p.Pro161=)	SNV Germline	Chr7:74045235	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_150690195	4 SubmittersRCV001161672 RCV001161673 RCV001702769
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)	SNV Germline	Chr7:74048166	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_934014841	4 SubmittersRCV001163194 RCV001163195 RCV001664714 RCV004032867
NM_000501.4(ELN):c.853G>A (p.Val285Met)	SNV Germline	Chr7:74051803	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_199709542	3 SubmittersRCV001165289 RCV001165288 RCV003883565
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)	SNV Germline	Chr7:74060394	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1	Criteria Provided Conflicting Classifications		rs_150248865	2 SubmittersRCV001163419 RCV001163418
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)	SNV Germline	Chr7:74063185	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_781963804	2 SubmittersRCV001163706 RCV001163707
NM_000501.4(ELN):c.2131+14C>T	SNV Germline	Chr7:74066790	Conflicting classifications of pathogenicity	Cutis laxa, autosomal dominant 1 Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_782790041	2 SubmittersRCV001163517 RCV001163518
NM_000501.4(ELN):c.134-16T>C	SNV Germline	Chr7:74036539	Conflicting classifications of pathogenicity	Williams syndrome Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_782791376	2 SubmittersRCV001197812 RCV002069286
NM_000501.4(ELN):c.686-2A>G	SNV Germline	Chr7:74048140	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_782390271	1 SubmittersRCV001222647
NM_000501.4(ELN):c.377-1G>T	SNV Germline	Chr7:74043117	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_1554669774	1 SubmittersRCV001242994
NM_000501.4(ELN):c.643+1G>C	SNV Germline	Chr7:74046768	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_1131691482	1 SubmittersRCV001253424
NM_000501.4(ELN):c.890-1G>A	SNV Germline	Chr7:74051923	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_1794129841	1 SubmittersRCV001290140
NM_000501.4(ELN):c.1202C>T (p.Ala401Val)	SNV Germline	Chr7:74056322	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_782493042	3 SubmittersRCV001311285 RCV002070143 RCV004034237
NM_000501.4(ELN):c.82+1G>A	SNV Germline	Chr7:74028270	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_2130830261	1 SubmittersRCV001378808
NM_000501.4(ELN):c.889+1G>C	SNV Germline	Chr7:74051840	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_782238674	1 SubmittersRCV001377290
NM_000501.4(ELN):c.82+1G>C	SNV Germline	Chr7:74028270	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_2130830261	1 SubmittersRCV001383978
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter)	SNV Germline	Chr7:74051982	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_2131858633	1 SubmittersRCV001391004
NM_000501.4(ELN):c.1697C>T (p.Ala566Val)	SNV Germline	Chr7:74060451	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_138876104	3 SubmittersRCV001440731 RCV001587411 RCV003264035
NM_000501.4(ELN):c.2032+1G>A	SNV Germline	Chr7:74065733	Pathogenic/Likely pathogenic	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Multiple Submitters No Conflicts		rs_781859711	2 SubmittersRCV001783197 RCV001868845
NM_000501.4(ELN):c.1577-2A>T	SNV Germline	Chr7:74060138	Conflicting classifications of pathogenicity	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Conflicting Classifications		rs_1230920104	2 SubmittersRCV001794588 RCV002541272
NM_000501.4(ELN):c.1747+21C>T	SNV Germline	Chr7:74060522	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis ELN-related disorder	Criteria Provided Conflicting Classifications		rs_782679593	2 SubmittersRCV001930506 RCV004542175
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)	SNV Germline	Chr7:74057655	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Cutis laxa, autosomal dominant 1 Williams syndrome Supravalvar aortic stenosis Condition: not provided ELN-related disorder	Criteria Provided Conflicting Classifications		rs_149117932	4 SubmittersRCV001947909 RCV002479410 RCV003149006 RCV004538614
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter)	SNV Germline	Chr7:74056707	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_2132079396	1 SubmittersRCV001890278
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter)	SNV Germline	Chr7:74056288	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter		rs_372889752	1 SubmittersRCV001992655
NM_000501.4(ELN):c.74G>A (p.Arg25Gln)	SNV Germline	Chr7:74028261	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003056568 RCV003274181
NM_000501.4(ELN):c.1747+100G>C	SNV Germline	Chr7:74060601	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV002791601
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)	SNV Germline	Chr7:74060408	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV002835031
NM_000501.4(ELN):c.326-1G>T	SNV Germline	Chr7:74042983	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV002907979
NM_000501.4(ELN):c.1414+1G>C	SNV Germline	Chr7:74057697	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV002890019
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)	SNV Germline	Chr7:74060495	Conflicting classifications of pathogenicity	Supravalvar aortic stenosis Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002982307 RCV003111610
NM_000501.4(ELN):c.377-2A>G	SNV Germline	Chr7:74043116	Pathogenic/Likely pathogenic	Condition: not provided Supravalvar aortic stenosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003328708 RCV003030952
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)	SNV Germline	Chr7:74043022	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV003518465
NM_000501.4(ELN):c.1A>G (p.Met1Val)	SNV Germline	Chr7:74028188	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV003518760
NM_000501.4(ELN):c.163+2T>A	SNV Germline	Chr7:74036586	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV003517641
NM_000501.4(ELN):c.2033-1G>C	SNV Germline	Chr7:74065943	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV003631886
NM_000501.4(ELN):c.1576+2T>A	SNV Germline	Chr7:74060049	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV003632147
NM_000501.4(ELN):c.746-2A>T	SNV Germline	Chr7:74048501	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV003632885
NM_000501.4(ELN):c.542-1G>C	SNV Germline	Chr7:74046187	Likely pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV003818305
NM_000501.4(ELN):c.1957G>T (p.Gly653Ter)	SNV Germline	Chr7:74063659	Pathogenic	Supravalvar aortic stenosis	Criteria Provided Single Submitter			1 SubmittersRCV004018341

NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)

SNV
Germline

Chr7:74056680

Pathogenic

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Multiple Submitters
No Conflicts

CA281025

rs_137854452

5 SubmittersRCV000255419 RCV000018206

NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)

SNV
Germline

Chr7:74043901

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

CA281040

rs_137854454

2 SubmittersRCV000018215

NM_000501.4(ELN):c.526A>T (p.Lys176Ter)

SNV
Germline

Chr7:74045278

Pathogenic

Supravalvar aortic stenosis

No Assertion Criteria Provided

CA281042

rs_137854455

1 SubmittersRCV000018216

NM_000501.4(ELN):c.1858+5G>C

SNV
Germline

Chr7:74063229

Pathogenic

Supravalvar aortic stenosis

No Assertion Criteria Provided

rs_1554686162

1 SubmittersRCV000022536

NM_000501.4(ELN):c.800-3C>G

SNV
Germline

Chr7:74051747

Pathogenic

Condition: not provided
Supravalvar aortic stenosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA281109

rs_397516433

5 SubmittersRCV000199556 RCV000036528 RCV000624154

NM_000501.4(ELN):c.800-2A>G

SNV
Germline

Chr7:74051748

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Multiple Submitters
No Conflicts

CA281471

rs_727503027

3 SubmittersRCV000150636

NM_000501.4(ELN):c.1097-1G>A

SNV
Germline

Chr7:74054715

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

CA281473

rs_727503029

1 SubmittersRCV000150638

NM_000501.4(ELN):c.1150+1G>A

SNV
Germline

Chr7:74054770

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Condition: not provided
Hypertelorism
Dural ectasia
Venous malformation
Abnormal digit morphology
Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
not specified

Criteria Provided
Conflicting Classifications

CA281474

rs_727503030

9 SubmittersRCV000150639 RCV000200273 RCV000626794 RCV000660643 RCV002247549

NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter)

SNV
Germline

Chr7:74061138

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

CA281478

rs_727503033

1 SubmittersRCV000150644

NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)

SNV
Germline

Chr7:74063224

Pathogenic/Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Multiple Submitters
No Conflicts

CA281480

rs_727503034

2 SubmittersRCV000150645

NM_000501.4(ELN):c.1918+1G>A

SNV
Germline

Chr7:74063370

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

CA281482

rs_727503035

1 SubmittersRCV000150646

NM_000501.4(ELN):c.889+2T>C

SNV
Germline

Chr7:74051841

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

CA281483

rs_727504419

1 SubmittersRCV000154614

NM_000501.4(ELN):c.890-2A>G

SNV
Germline

Chr7:74051922

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

CA281485

rs_727504434

1 SubmittersRCV000154673

NM_000501.4(ELN):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:74028189

Pathogenic/Likely pathogenic

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Multiple Submitters
No Conflicts

CA319968

rs_863223518

3 SubmittersRCV000195606 RCV000627831

NM_000501.4(ELN):c.326G>A (p.Gly109Asp)

SNV
Germline

Chr7:74042984

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA320313

rs_145519139

3 SubmittersRCV000462325 RCV000272510 RCV001531043

NM_000501.4(ELN):c.647G>T (p.Gly216Val)

SNV
Germline

Chr7:74047678

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Condition: not provided
Cutis laxa, autosomal dominant 1
Williams syndrome
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA324493

rs_145612009

6 SubmittersRCV000531891 RCV000728083 RCV000765972 RCV001161674

NM_000501.4(ELN):c.659C>T (p.Pro220Leu)

SNV
Germline

Chr7:74047690

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA322484

rs_201012726

4 SubmittersRCV000198008 RCV000279620 RCV000334634

NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)

SNV
Germline

Chr7:74056402

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_200862792

2 SubmittersRCV001171311

NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)

SNV
Germline

Chr7:74065699

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA321710

rs_142316834

8 SubmittersRCV000351619 RCV000405378 RCV001579602 RCV004530153

NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)

SNV
Germline

Chr7:74043901

Pathogenic

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10588434

rs_137854454

2 SubmittersRCV000255722 RCV002518760

NM_000501.4(ELN):c.470-10C>G

SNV
Germline

Chr7:74045212

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4292514

rs_200663056

4 SubmittersRCV000338429 RCV000408115 RCV000725265

NM_000501.4(ELN):c.328G>A (p.Ala110Thr)

SNV
Germline

Chr7:74042986

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
Familial atrioventricular septal defect
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292446

rs_137953195

6 SubmittersRCV000327769 RCV000382394 RCV000492857 RCV000984480 RCV004530459

NM_000501.4(ELN):c.861G>A (p.Gly287=)

SNV
Germline

Chr7:74051811

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292726

rs_368610108

7 SubmittersRCV000313561 RCV000471889 RCV001579470 RCV004530460

NM_000501.4(ELN):c.1281C>T (p.Pro427=)

SNV
Germline

Chr7:74056401

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292915

rs_376496267

2 SubmittersRCV000291392 RCV000385690

NM_000501.4(ELN):c.163+13A>G

SNV
Germline

Chr7:74036597

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292322

rs_782388951

2 SubmittersRCV000260411 RCV000355248

NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)

SNV
Germline

Chr7:74063191

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4293244

rs_200133966

4 SubmittersRCV000285328 RCV000381857 RCV001556564 RCV004022054

NM_000501.4(ELN):c.930C>T (p.Ala310=)

SNV
Germline

Chr7:74051964

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292767

rs_147367888

5 SubmittersRCV000269825 RCV000324956 RCV000659073 RCV004544695

NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)

SNV
Germline

Chr7:74056354

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4292902

rs_375116795

3 SubmittersRCV000305970 RCV000360713 RCV001551670

NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)

SNV
Germline

Chr7:74063312

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4293267

rs_150404125

8 SubmittersRCV000281338 RCV000338747 RCV001579838 RCV004544696

NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)

SNV
Germline

Chr7:74065988

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4293372

rs_369804770

3 SubmittersRCV000311994 RCV000369053 RCV000443075

NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)

SNV
Germline

Chr7:74063360

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Williams syndrome
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4293282

rs_536177240

4 SubmittersRCV000298998 RCV000407993 RCV001198806 RCV004544697

NM_000501.4(ELN):c.232+3G>A

SNV
Germline

Chr7:74041254

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA4292385

rs_377172364

7 SubmittersRCV000444452 RCV000998804 RCV001055635 RCV001163092

NM_000501.4(ELN):c.164-2A>C

SNV
Germline

Chr7:74037705

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292350

rs_782096458

3 SubmittersRCV000430802 RCV001210534 RCV004539797

NM_000501.4(ELN):c.594G>A (p.Pro198=)

SNV
Germline

Chr7:74046718

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292586

rs_140337204

2 SubmittersRCV000418810 RCV001078474

NM_000501.4(ELN):c.1537G>A (p.Val513Ile)

SNV
Germline

Chr7:74060008

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 1
Inborn genetic diseases
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4293089

rs_372788076

4 SubmittersRCV000478684 RCV002470874 RCV002526957 RCV002525947

NM_000501.4(ELN):c.1358-198G>A

SNV
Germline

Chr7:74057442

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis
not specified

Criteria Provided
Conflicting Classifications

CA4292991

rs_192461213

5 SubmittersRCV000512804 RCV002524034 RCV003323569

NM_000501.4(ELN):c.460G>A (p.Val154Met)

SNV
Germline

Chr7:74043911

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4292496

rs_145669576

5 SubmittersRCV000522898 RCV001158464 RCV001158465 RCV004541630

NM_000501.4(ELN):c.473C>T (p.Ala158Val)

SNV
Germline

Chr7:74045225

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 1
Inborn genetic diseases
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292521

rs_201137255

4 SubmittersRCV000521003 RCV001161669 RCV002525163 RCV001161668

NM_000501.4(ELN):c.159A>T (p.Gly53=)

SNV
Germline

Chr7:74036580

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4292321

rs_200810494

2 SubmittersRCV000551473 RCV003320668

NM_000501.4(ELN):c.634A>T (p.Lys212Ter)

SNV
Germline

Chr7:74046758

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

CA367870326

rs_1554672587

1 SubmittersRCV000614385

NM_000501.4(ELN):c.376+5G>A

SNV
Germline

Chr7:74043039

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292457

rs_782770862

2 SubmittersRCV001719016 RCV003105993

NM_000501.4(ELN):c.1149C>T (p.Tyr383=)

SNV
Germline

Chr7:74054768

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292859

rs_199621188

6 SubmittersRCV000601297 RCV001579786 RCV001855234

NM_000501.4(ELN):c.133+5C>T

SNV
Germline

Chr7:74035419

Conflicting classifications of pathogenicity

not specified
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

CA4292266

rs_375144839

2 SubmittersRCV000600020 RCV001855233

NM_000501.4(ELN):c.1675G>A (p.Val559Ile)

SNV
Germline

Chr7:74060429

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Williams syndrome
Condition: not provided
Inborn genetic diseases
ELN-related disorder

Criteria Provided
Conflicting Classifications

CA4293156

rs_560081099

5 SubmittersRCV000627827 RCV000765973 RCV000762455 RCV002533162 RCV004533301

NM_000501.4(ELN):c.944A>G (p.Lys315Arg)

SNV
Germline

Chr7:74051978

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

CA367871485

rs_1554676454

1 SubmittersRCV000627826

NM_000501.4(ELN):c.1358-192C>T

SNV
Germline

Chr7:74057448

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
See cases

Criteria Provided
Conflicting Classifications

CA4292993

rs_185060213

2 SubmittersRCV000627829 RCV002252183

NM_000501.4(ELN):c.1994-2A>C

SNV
Germline

Chr7:74065692

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

rs_1440841207

2 SubmittersRCV000658277 RCV001067661

NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)

SNV
Germline

Chr7:74048146

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_1400530335

1 SubmittersRCV000705833

NM_000501.4(ELN):c.767C>T (p.Ala256Val)

SNV
Germline

Chr7:74048524

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_782285456

2 SubmittersRCV000693591 RCV001165287

NM_000501.4(ELN):c.18G>A (p.Ala6=)

SNV
Germline

Chr7:74028205

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
ELN-related disorder

Criteria Provided
Conflicting Classifications

rs_542540015

2 SubmittersRCV000688653 RCV004535711

NM_000501.4(ELN):c.1622-6C>T

SNV
Germline

Chr7:74060370

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis
ELN-related disorder

Criteria Provided
Conflicting Classifications

rs_1280128851

3 SubmittersRCV000788371 RCV003631163 RCV004535918

NM_000501.4(ELN):c.163+2T>C

SNV
Germline

Chr7:74036586

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_1584494326

1 SubmittersRCV000808443

NM_000501.4(ELN):c.686-1G>A

SNV
Germline

Chr7:74048141

Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_1583818183

1 SubmittersRCV000798399

NM_000501.4(ELN):c.1322C>T (p.Ala441Val)

SNV
Germline

Chr7:74056678

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200444292

3 SubmittersRCV000841035 RCV001088619 RCV002538303

NM_000501.4(ELN):c.1622-14C>T

SNV
Germline

Chr7:74060362

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

rs_782637446

2 SubmittersRCV000838700 RCV001858431

NM_000501.4(ELN):c.1884C>T (p.Ala628=)

SNV
Germline

Chr7:74063335

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_372315353

5 SubmittersRCV000862558 RCV001336345 RCV001593073

NM_000501.4(ELN):c.1994-7T>G

SNV
Germline

Chr7:74065687

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

rs_375277198

4 SubmittersRCV000863362 RCV001158791 RCV001571307 RCV004540172

NM_000501.4(ELN):c.278C>T (p.Pro93Leu)

SNV
Germline

Chr7:74042659

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_181019457

3 SubmittersRCV000865974 RCV001165177 RCV003279129

NM_000501.4(ELN):c.1358-225T>C

SNV
Germline

Chr7:74057415

Conflicting classifications of pathogenicity

ELN-related disorder
Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375867140

3 SubmittersRCV004538278 RCV002539015 RCV000868785

NM_000501.4(ELN):c.391C>T (p.Gln131Ter)

SNV
Germline

Chr7:74043132

Pathogenic

Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1791626037

2 SubmittersRCV001057403 RCV001567502

NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)

SNV
Germline

Chr7:74054768

Pathogenic/Likely pathogenic

Supravalvar aortic stenosis
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Williams syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_199621188

2 SubmittersRCV001036361 RCV002489542

NM_000501.4(ELN):c.542-2A>T

SNV
Germline

Chr7:74046186

Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_782528759

1 SubmittersRCV001037783

NM_000501.4(ELN):c.1919-1G>A

SNV
Germline

Chr7:74063620

Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_1797218441

1 SubmittersRCV001062655

NM_000501.4(ELN):c.1576+1G>A

SNV
Germline

Chr7:74060048

Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_782674700

1 SubmittersRCV001064599

NM_000501.4(ELN):c.1621+1G>A

SNV
Germline

Chr7:74060185

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_782279081

3 SubmittersRCV001053533 RCV001281373 RCV003106105

NM_000501.4(ELN):c.35G>T (p.Gly12Val)

SNV
Germline

Chr7:74028222

Conflicting classifications of pathogenicity

Condition: not provided
Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Williams syndrome

Criteria Provided
Conflicting Classifications

rs_367634266

5 SubmittersRCV001093392 RCV001158353 RCV001161558 RCV002505673

NM_000501.4(ELN):c.478T>C (p.Phe160Leu)

SNV
Germline

Chr7:74045230

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_781857513

2 SubmittersRCV001161670 RCV001161671

NM_000501.4(ELN):c.483C>A (p.Pro161=)

SNV
Germline

Chr7:74045235

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150690195

4 SubmittersRCV001161672 RCV001161673 RCV001702769

NM_000501.4(ELN):c.710G>C (p.Gly237Ala)

SNV
Germline

Chr7:74048166

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_934014841

4 SubmittersRCV001163194 RCV001163195 RCV001664714 RCV004032867

NM_000501.4(ELN):c.853G>A (p.Val285Met)

SNV
Germline

Chr7:74051803

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199709542

3 SubmittersRCV001165289 RCV001165288 RCV003883565

NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)

SNV
Germline

Chr7:74060394

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1

Criteria Provided
Conflicting Classifications

rs_150248865

2 SubmittersRCV001163419 RCV001163418

NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)

SNV
Germline

Chr7:74063185

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

rs_781963804

2 SubmittersRCV001163706 RCV001163707

NM_000501.4(ELN):c.2131+14C>T

SNV
Germline

Chr7:74066790

Conflicting classifications of pathogenicity

Cutis laxa, autosomal dominant 1
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

rs_782790041

2 SubmittersRCV001163517 RCV001163518

NM_000501.4(ELN):c.134-16T>C

SNV
Germline

Chr7:74036539

Conflicting classifications of pathogenicity

Williams syndrome
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

rs_782791376

2 SubmittersRCV001197812 RCV002069286

NM_000501.4(ELN):c.686-2A>G

SNV
Germline

Chr7:74048140

Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_782390271

1 SubmittersRCV001222647

NM_000501.4(ELN):c.377-1G>T

SNV
Germline

Chr7:74043117

Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_1554669774

1 SubmittersRCV001242994

NM_000501.4(ELN):c.643+1G>C

SNV
Germline

Chr7:74046768

Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_1131691482

1 SubmittersRCV001253424

NM_000501.4(ELN):c.890-1G>A

SNV
Germline

Chr7:74051923

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_1794129841

1 SubmittersRCV001290140

NM_000501.4(ELN):c.1202C>T (p.Ala401Val)

SNV
Germline

Chr7:74056322

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_782493042

3 SubmittersRCV001311285 RCV002070143 RCV004034237

NM_000501.4(ELN):c.82+1G>A

SNV
Germline

Chr7:74028270

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_2130830261

1 SubmittersRCV001378808

NM_000501.4(ELN):c.889+1G>C

SNV
Germline

Chr7:74051840

Likely pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_782238674

1 SubmittersRCV001377290

NM_000501.4(ELN):c.82+1G>C

SNV
Germline

Chr7:74028270

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_2130830261

1 SubmittersRCV001383978

NM_000501.4(ELN):c.948T>A (p.Tyr316Ter)

SNV
Germline

Chr7:74051982

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_2131858633

1 SubmittersRCV001391004

NM_000501.4(ELN):c.1697C>T (p.Ala566Val)

SNV
Germline

Chr7:74060451

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_138876104

3 SubmittersRCV001440731 RCV001587411 RCV003264035

NM_000501.4(ELN):c.2032+1G>A

SNV
Germline

Chr7:74065733

Pathogenic/Likely pathogenic

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_781859711

2 SubmittersRCV001783197 RCV001868845

NM_000501.4(ELN):c.1577-2A>T

SNV
Germline

Chr7:74060138

Conflicting classifications of pathogenicity

Condition: not provided
Supravalvar aortic stenosis

Criteria Provided
Conflicting Classifications

rs_1230920104

2 SubmittersRCV001794588 RCV002541272

NM_000501.4(ELN):c.1747+21C>T

SNV
Germline

Chr7:74060522

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
ELN-related disorder

Criteria Provided
Conflicting Classifications

rs_782679593

2 SubmittersRCV001930506 RCV004542175

NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)

SNV
Germline

Chr7:74057655

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Williams syndrome
Supravalvar aortic stenosis
Condition: not provided
ELN-related disorder

Criteria Provided
Conflicting Classifications

rs_149117932

4 SubmittersRCV001947909 RCV002479410 RCV003149006 RCV004538614

NM_000501.4(ELN):c.1351A>T (p.Lys451Ter)

SNV
Germline

Chr7:74056707

Pathogenic

Supravalvar aortic stenosis

Criteria Provided
Single Submitter

rs_2132079396

1 SubmittersRCV001890278

NM_000501.4(ELN):c.1168G>T (p.Gly390Ter)