Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)	SNV Germline	Chr2:165992332	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Autosomal dominant epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA256584	rs_121918622	6 SubmittersRCV000013742 RCV000059521 RCV000484119 RCV001040793 RCV001192959
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)	SNV Germline	Chr2:166038098	Pathogenic/Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 1 Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases Seizure SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256587	rs_121918623	11 SubmittersRCV000013743 RCV000059471 RCV000686817 RCV001253103 RCV001311218 RCV002316193 RCV004554602 RCV004724740
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	SNV Germline	Chr2:166052882	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy Intellectual disability Inborn genetic diseases Generalized epilepsy with febrile seizures plus, type 2 Febrile seizures, familial, 3a Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA273115	rs_121918624	16 SubmittersRCV000032604 RCV000188841 RCV000763461 RCV001037392 RCV001257707 RCV002316194 RCV003388823 RCV005243098
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)	SNV Germline	Chr2:166036521	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA281911	rs_121918625	4 SubmittersRCV000032605 RCV000794577
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)	SNV Germline	Chr2:165992149	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA256611	rs_121918629	4 SubmittersRCV000013754 RCV000013755 RCV001296128
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)	SNV Germline	Chr2:165994167	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	No Assertion Criteria Provided	CA256614	rs_121918630	3 SubmittersRCV000013756 RCV000013757
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)	SNV Germline	Chr2:165992269	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA281748	rs_397514458	2 SubmittersRCV000022764 RCV001379443
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)	SNV Germline	Chr2:166039428	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA281752	rs_397514459	1 SubmittersRCV000022765
NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)	SNV Germline	Chr2:166047725	Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA284856	rs_121917923	2 SubmittersRCV000059372 RCV000997285
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)	SNV Germline	Chr2:166047667	Pathogenic/Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA266086	rs_121917957	7 SubmittersRCV000059374 RCV000180936 RCV000188861 RCV001775078 RCV001226020
NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser)	SNV Germline	Chr2:166046970	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA284865	rs_121917929	2 SubmittersRCV000059376 RCV001036662
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SNV Germline	Chr2:166046970	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Intellectual disability, mild Seizure Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA284868	rs_121917929	11 SubmittersRCV000059377 RCV000188854 RCV000554304 RCV000857236 RCV002262611
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	SNV Germline	Chr2:166046969	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Seizure	Criteria Provided Multiple Submitters No Conflicts	CA284871	rs_121917927	16 SubmittersRCV000059378 RCV000188863 RCV000636386 RCV001198232 RCV005624314
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu)	SNV Germline	Chr2:166046940	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA284874	rs_121917966	3 SubmittersRCV000059380 RCV002345371 RCV002514305
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)	SNV Unknown	Chr2:166046910	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA284877	rs_121917967	3 SubmittersRCV000059381
NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly)	SNV Germline	Chr2:166043836	Pathogenic	Generalized epilepsy Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA145235	rs_121917990	2 SubmittersRCV000059384 RCV000180909
NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg)	SNV Germline	Chr2:166039577	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA284895	rs_121917941	2 SubmittersRCV000059390 RCV002513779
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)	SNV Germline	Chr2:166073371	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA284901	rs_121917964	4 SubmittersRCV000059392 RCV000255485 RCV000695650 RCV000763463
NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro)	SNV Germline	Chr2:166037897	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA284904	rs_121917943	2 SubmittersRCV000059393 RCV005089494
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)	SNV Germline	Chr2:166037885	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Seizure	Criteria Provided Multiple Submitters No Conflicts	CA284910	rs_121917971	13 SubmittersRCV000059395 RCV000378734 RCV002433566 RCV000543457 RCV001004709 RCV004595905 RCV001264404
NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu)	SNV Germline	Chr2:166037873	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA284913	rs_121917972	2 SubmittersRCV000059396 RCV000429753
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	SNV Germline	Chr2:166058652	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA284919	rs_121917965	9 SubmittersRCV000059399 RCV000357692 RCV001199316 RCV000541714
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	SNV Germline	Chr2:166058651	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA273119	rs_121917918	11 SubmittersRCV000059400 RCV000188829 RCV000550639 RCV001197275 RCV004796001
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)	SNV Germline	Chr2:166013829	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA284925	rs_121917963	3 SubmittersRCV000059403 RCV000818870 RCV002054912
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)	SNV Germline	Chr2:166013752	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA284928	rs_121917911	2 SubmittersRCV000059404 RCV001344646
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)	SNV Germline	Chr2:166012274	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA234849	rs_121917973	8 SubmittersRCV000059405 RCV000723903 RCV001476333 RCV001836728 RCV005480321
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)	SNV Germline	Chr2:166012254	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA284931	rs_121917912	6 SubmittersRCV000188926 RCV000059406 RCV000636387 RCV001836729 RCV004796002
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)	SNV Germline	Chr2:166009797	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided not specified Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA231476	rs_121917910	14 SubmittersRCV000059407 RCV000118242 RCV000188828 RCV001080063 RCV001133131 RCV001133132 RCV002313742 RCV004542732
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)	SNV Germline	Chr2:166002753	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA284934	rs_121917960	4 SubmittersRCV000059408 RCV001202491 RCV003352765
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)	SNV Germline	Chr2:166002588	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA284940	rs_121917986	9 SubmittersRCV000059411 RCV000254970 RCV000804975 RCV002326783
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)	SNV Germline	Chr2:166002570	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA284943	rs_121917987	2 SubmittersRCV000059412 RCV002513780
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)	SNV Germline	Chr2:166002491	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA284949	rs_121917913	3 SubmittersRCV000059414 RCV001048734 RCV005000993
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)	SNV Germline	Chr2:165999740	Likely pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Single Submitter	CA284958	rs_121917974	2 SubmittersRCV000059417 RCV001267274
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)	SNV Germline	Chr2:165998162	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy See cases	Criteria Provided Multiple Submitters No Conflicts	CA284961	rs_121917945	4 SubmittersRCV000059418 RCV000812820 RCV003224861
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)	SNV Germline	Chr2:165994370	Conflicting classifications of pathogenicity	Focal epilepsy Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA145246	rs_121917992	6 SubmittersRCV000059424 RCV000726740 RCV003764742 RCV001333850
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	SNV Germline	Chr2:165994365	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA284976	rs_121917975	5 SubmittersRCV000059425 RCV001069069 RCV001249684 RCV005251055
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)	SNV Germline	Chr2:165994236	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA284979	rs_121917919	3 SubmittersRCV000188974 RCV000059426 RCV000636318
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	SNV Germline	Chr2:165994212	Pathogenic/Likely pathogenic	Focal epilepsy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Autosomal dominant epilepsy Developmental and epileptic encephalopathy Seizure Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA145250	rs_121917993	12 SubmittersRCV000059427 RCV000188978 RCV001031013 RCV002265592 RCV000794558 RCV005624315 RCV001253159
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)	SNV Germline	Chr2:165994176	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA284982	rs_121917915	6 SubmittersRCV000059428 RCV000636349 RCV005000994
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)	SNV Germline	Chr2:165992387	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA284988	rs_121917914	3 SubmittersRCV000059430 RCV001339387 RCV001781396
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	SNV Germline	Chr2:165992368	Pathogenic/Likely pathogenic	Macrocephaly and epileptic encephalopathy Developmental and epileptic encephalopathy Condition: not provided Inborn genetic diseases Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA145253	rs_121917995	8 SubmittersRCV000059431 RCV000463147 RCV000176634 RCV000623263 RCV002281560 RCV003448258
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	SNV Germline	Chr2:165992341	Pathogenic	Severe myoclonic epilepsy in infancy Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA284991	rs_121917976	8 SubmittersRCV000059432 RCV000763457 RCV000188986 RCV001198988 RCV001208285 RCV002316217
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg)	SNV Germline	Chr2:165992134	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA285003	rs_121917949	2 SubmittersRCV000059439 RCV004566910
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)	SNV Germline	Chr2:165992129	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285006	rs_121917926	3 SubmittersRCV000188987 RCV000059440 RCV005089495
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)	SNV Unknown	Chr2:165991990	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285012	rs_121917950	2 SubmittersRCV000059442
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)	SNV Germline	Chr2:165991957	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA285015	rs_121917951	2 SubmittersRCV000059443 RCV000693267
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)	SNV Germline	Chr2:165991936	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA285018	rs_121917952	2 SubmittersRCV000059444 RCV001854242
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	SNV Germline	Chr2:165991928	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA285021	rs_121917980	10 SubmittersRCV000059445 RCV000188999 RCV001240035 RCV001849308 RCV002468563 RCV002490666
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)	SNV Germline	Chr2:165991927	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285024	rs_121917921	6 SubmittersRCV000059446 RCV000189000 RCV001207693
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)	SNV Germline	Chr2:165991510	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA285030	rs_121917981	3 SubmittersRCV000189020 RCV000059449 RCV002470754
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)	SNV Germline	Chr2:166054660	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided Inborn genetic diseases Seizure Febrile seizures, familial, 3a Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Autosomal dominant epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA285033	rs_121917935	13 SubmittersRCV000059451 RCV000636440 RCV000522680 RCV004019070 RCV005624316 RCV005243110 RCV005406802
NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)	SNV Germline	Chr2:166052896	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA285039	rs_121917936	2 SubmittersRCV000059453 RCV002513781
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	SNV Germline	Chr2:166052869	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy, 6A Global developmental delay Seizure Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA285042	rs_121917984	16 SubmittersRCV000059454 RCV000188843 RCV000558296 RCV000763460 RCV002470755 RCV001003956 RCV001420531 RCV003764743
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)	SNV Germline	Chr2:166052866	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285045	rs_121917937	8 SubmittersRCV000059455 RCV000188842 RCV000636408
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr)	SNV Germline	Chr2:166051968	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285048	rs_121917985	3 SubmittersRCV000059456 RCV003588569
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)	SNV Germline	Chr2:166051967	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285051	rs_121917909	2 SubmittersRCV000059457
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)	SNV Germline	Chr2:166051845	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285054	rs_121917938	3 SubmittersRCV000059459 RCV003588570
NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile)	SNV Germline	Chr2:166048949	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA285057	rs_121917928	2 SubmittersRCV000059460 RCV000808399
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp)	SNV Germline	Chr2:166048886	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285060	rs_121918753	3 SubmittersRCV000059461 RCV002381374 RCV001390614
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)	SNV Germline	Chr2:166046931	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA248047	rs_121918768	4 SubmittersRCV000059463 RCV000180562 RCV002514306
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)	SNV Germline	Chr2:166045080	Conflicting classifications of pathogenicity	Autism not specified Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Epilepsy Self-limited epilepsy with centrotemporal spikes Severe myoclonic epilepsy in infancy Intellectual disability Condition: not provided Inborn genetic diseases SCN1A-related disorder Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Conflicting Classifications	CA234872	rs_121918817	17 SubmittersRCV000059464 RCV000118239 RCV000475058 RCV000578859 RCV000655983 RCV000789040 RCV001252611 RCV001705717 RCV002316218 RCV004537265 RCV005394297
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)	SNV Germline	Chr2:166039427	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA285069	rs_121918785	6 SubmittersRCV000059469 RCV000591357 RCV000798343
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)	SNV Germline	Chr2:166038098	Likely pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Single Submitter	CA285072	rs_121918623	2 SubmittersRCV000059470 RCV002247463
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)	SNV Germline	Chr2:166058684	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA285078	rs_121918733	3 SubmittersRCV000059473 RCV000332135
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)	SNV Germline	Chr2:166058681	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA285081	rs_121918734	4 SubmittersRCV000059474 RCV000819332 RCV003157390
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)	SNV Germline	Chr2:166037931	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273369	rs_121918788	7 SubmittersRCV000059475 RCV000188897 RCV000636409 RCV004542733
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr)	SNV Germline	Chr2:166037907	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA285087	rs_121918736	4 SubmittersRCV000059477 RCV001548630
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala)	SNV Germline	Chr2:166037891	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA285093	rs_121917969	2 SubmittersRCV000059479 RCV000636356
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)	SNV Germline	Chr2:166037886	Pathogenic	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA269785	rs_121918775	10 SubmittersRCV000189085 RCV000118240 RCV000059481 RCV000636276
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)	SNV Germline	Chr2:166037868	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285099	rs_121918737	2 SubmittersRCV000059482
NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys)	SNV Germline	Chr2:166037862	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA285102	rs_121918786	2 SubmittersRCV000059483 RCV001054726
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)	SNV Germline	Chr2:166037847	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285105	rs_121918796	4 SubmittersRCV000059484 RCV001387943
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)	SNV Germline	Chr2:166037844	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA285108	rs_121918750	3 SubmittersRCV000059485 RCV000817420 RCV002247464
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)	SNV Germline	Chr2:166037787	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA285111	rs_121918754	4 SubmittersRCV000059486 RCV000519810
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)	SNV Germline	Chr2:166058618	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA285126	rs_121918745	4 SubmittersRCV000059492 RCV001854244 RCV000433130
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	SNV Germline	Chr2:166015636	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 not specified Epilepsy Generalized non-motor (absence) seizure Bilateral tonic-clonic seizure Seizure Self-limited epilepsy with centrotemporal spikes Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA221580	rs_121918799	16 SubmittersRCV000059493 RCV000188915 RCV000296106 RCV000415355 RCV000655982 RCV000723551 RCV001082811 RCV000986890 RCV001129578 RCV002313744 RCV004537267
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)	SNV Germline	Chr2:166013820	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285129	rs_121918738	2 SubmittersRCV000059494
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)	SNV Germline	Chr2:166013756	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285135	rs_121918746	2 SubmittersRCV000059496
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)	SNV Germline	Chr2:166012210	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Conflicting Classifications	CA285141	rs_121918739	3 SubmittersRCV000059498 RCV003137601
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)	SNV Germline	Chr2:166012128	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285150	rs_121918740	3 SubmittersRCV000059502 RCV001385513
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)	SNV Germline	Chr2:166009796	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 1 not specified Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Conflicting Classifications	CA266111	rs_121918801	5 SubmittersRCV000059503 RCV000188936 RCV001220193 RCV001786331 RCV005243111
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)	SNV Germline	Chr2:166002660	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 1 Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA266114	rs_121918805	6 SubmittersRCV000059506 RCV001719807 RCV003989315 RCV004668767 RCV001381481
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)	SNV Germline	Chr2:165999763	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285162	rs_121918741	4 SubmittersRCV000059509 RCV000521069 RCV001067468
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)	SNV Germline	Chr2:165999761	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA285165	rs_121918789	4 SubmittersRCV000059510 RCV001091662 RCV001854245 RCV001253411
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)	SNV Germline	Chr2:165996053	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy not specified Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA285177	rs_121918764	3 SubmittersRCV000059514 RCV000517134 RCV001296129
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	SNV Germline	Chr2:165994275	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA219777	rs_121918807	9 SubmittersRCV000059515 RCV001513378 RCV000986874 RCV004955268
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)	SNV Germline	Chr2:165994241	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285180	rs_121918742	3 SubmittersRCV000059516 RCV003588571
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)	SNV Germline	Chr2:165994164	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Inborn genetic diseases Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA285183	rs_121918808	5 SubmittersRCV000059517 RCV002336219 RCV005251056 RCV002054913
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)	SNV Germline	Chr2:165992333	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA285189	rs_121918791	5 SubmittersRCV000059520 RCV003588572 RCV003233101
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)	SNV Germline	Chr2:165992302	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285192	rs_121917922	4 SubmittersRCV000059523 RCV000529623
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)	SNV Germline	Chr2:165992293	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA285195	rs_121918797	3 SubmittersRCV000059524 RCV005401321
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)	SNV Germline	Chr2:165992200	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285207	rs_121918778	3 SubmittersRCV000059529 RCV002514308
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)	SNV Germline	Chr2:165992194	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy not specified Developmental and epileptic encephalopathy SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA285210	rs_121918777	4 SubmittersRCV000059530 RCV000501085 RCV000465483 RCV004734623
NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr)	SNV Germline	Chr2:166054717	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA285225	rs_121918767	3 SubmittersRCV000059536 RCV001062878 RCV005054155
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys)	SNV Germline	Chr2:165991933	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA285228	rs_121918779	2 SubmittersRCV000059537 RCV005089496
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)	SNV Germline	Chr2:166054710	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA285231	rs_121918770	3 SubmittersRCV000059538 RCV001246264
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)	SNV Germline	Chr2:165991929	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA285234	rs_121918763	2 SubmittersRCV000059539
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)	SNV Germline	Chr2:165991892	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 not specified Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA266126	rs_121918813	4 SubmittersRCV000059540 RCV000764284 RCV000489760 RCV000792317
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)	SNV Germline	Chr2:165991853	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Single Submitter	CA285237	rs_121918757	3 SubmittersRCV000059541 RCV000435635
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)	SNV Germline	Chr2:165991841	Likely pathogenic	Severe myoclonic epilepsy in infancy Seizure Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA206668	rs_121918751	3 SubmittersRCV000059542 RCV000193290 RCV000478850
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)	SNV Germline	Chr2:165991720	Pathogenic	Generalized epilepsy with febrile seizures plus, type 1 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA266129	rs_121918783	6 SubmittersRCV000059544 RCV000180879 RCV001854247 RCV005625262
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)	SNV Germline	Chr2:166054672	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285246	rs_121918773	4 SubmittersRCV000059548 RCV001854248
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)	SNV Germline	Chr2:165991549	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA285249	rs_121918793	5 SubmittersRCV000059549 RCV000494436 RCV000705871
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	SNV Germline	Chr2:165991405	Conflicting classifications of pathogenicity	West syndrome Developmental and epileptic encephalopathy Condition: not provided Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA213190	rs_121918802	10 SubmittersRCV000059551 RCV000537890 RCV000416094 RCV000764283 RCV004019071 RCV002247465
NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn)	SNV Germline	Chr2:166051928	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA285255	rs_121918780	3 SubmittersRCV000059552 RCV001569540 RCV005252729
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)	SNV Germline	Chr2:166051906	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Seizure	Criteria Provided Multiple Submitters No Conflicts	CA285258	rs_121918735	4 SubmittersRCV000059553 RCV000678837
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)	SNV Germline	Chr2:166051793	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA285264	rs_121918771	5 SubmittersRCV000059555 RCV001129823 RCV000997286 RCV001129824 RCV001393043
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)	SNV Germline	Chr2:165996047	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA357173	rs_139300715	5 SubmittersRCV000209885 RCV000702992 RCV000494091 RCV004528267
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)	SNV Germline	Chr2:166043875	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA266829	rs_398123585	7 SubmittersRCV000174048 RCV000255527 RCV000515441 RCV000557283
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)	SNV Germline	Chr2:166002537	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA266841	rs_398123593	6 SubmittersRCV000079581 RCV000636415 RCV001509554 RCV002316233
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr)	SNV Germline	Chr2:165992134	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA266846	rs_121917949	2 SubmittersRCV000079588 RCV001823112
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)	SNV Germline	Chr2:165991324	Conflicting classifications of pathogenicity	Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA221611	rs_146733308	8 SubmittersRCV000764282 RCV000723619 RCV001080157 RCV002313760 RCV004542757
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	SNV Germline	Chr2:166238128	Conflicting classifications of pathogenicity	not specified Primary erythromelalgia Inherited Erythromelalgia Severe myoclonic epilepsy in infancy Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Condition: not provided Neuropathy, hereditary sensory and autonomic, type 2A Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Inborn genetic diseases Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Paroxysmal extreme pain disorder Primary erythromelalgia Channelopathy-associated congenital insensitivity to pain, autosomal recessive Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 7 Hereditary ataxia	Criteria Provided Conflicting Classifications	CA201784	rs_141268327	19 SubmittersRCV000176065 RCV000714847 RCV000389147 RCV000328939 RCV000335798 RCV000383539 RCV000422016 RCV000714848 RCV001080021 RCV002345422 RCV003224155 RCV005252107 RCV005625298
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys)	SNV Germline	Chr2:166036493	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA234856	rs_727504138	4 SubmittersRCV000153892 RCV004760399 RCV002516100
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	SNV Germline	Chr2:166012255	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Inborn genetic diseases Seizure	Criteria Provided Multiple Submitters No Conflicts	CA273365	rs_727504136	9 SubmittersRCV000153888 RCV000188925 RCV001040173 RCV002492580 RCV002316972 RCV005624331
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)	SNV Germline	Chr2:166043973	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA234868	rs_544692790	6 SubmittersRCV000515440 RCV000471353 RCV000710209 RCV002408682 RCV004998305
NM_001165963.4(SCN1A):c.694+5G>C	SNV Germline	Chr2:166052847	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA234876	rs_727504142	3 SubmittersRCV000153902 RCV000180927 RCV001362206
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)	SNV Germline	Chr2:165991495	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303228	rs_794726737	1 SubmittersRCV000180845
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	SNV Germline	Chr2:165991601	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA303237	rs_794726739	7 SubmittersRCV000180848 RCV000189004 RCV000805798 RCV000995637 RCV002281566 RCV002505227
NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter)	SNV Germline	Chr2:165991613	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303571	rs_794726845	2 SubmittersRCV000180975 RCV005089849
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)	SNV Germline	Chr2:165991619	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303286	rs_779614747	5 SubmittersRCV000180864 RCV000189014 RCV000692766
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter)	SNV Germline	Chr2:165991739	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303126	rs_372098964	1 SubmittersRCV000180812
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)	SNV Germline	Chr2:165991760	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303429	rs_794726801	2 SubmittersRCV000180919 RCV003480074
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter)	SNV Germline	Chr2:165991805	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303342	rs_794726769	1 SubmittersRCV000180885
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter)	SNV Germline	Chr2:165991814	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303372	rs_794726781	1 SubmittersRCV000180897
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter)	SNV Germline	Chr2:165991871	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303368	rs_794726780	1 SubmittersRCV000180896
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly)	SNV Germline	Chr2:165992011	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303182	rs_794726722	1 SubmittersRCV000180829
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)	SNV Germline	Chr2:165992053	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303327	rs_794726763	3 SubmittersRCV000188996 RCV000180878 RCV002516537
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val)	SNV Germline	Chr2:165992167	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303433	rs_794726802	1 SubmittersRCV000180920
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)	SNV Germline	Chr2:165992169	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303444	rs_794726804	1 SubmittersRCV000180924
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter)	SNV Germline	Chr2:165992193	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303275	rs_794726748	1 SubmittersRCV000180859
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val)	SNV Germline	Chr2:165992212	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303590	rs_794726851	1 SubmittersRCV000180982
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His)	SNV Germline	Chr2:165992261	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303241	rs_794726740	1 SubmittersRCV000180849
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg)	SNV Germline	Chr2:165992272	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303095	rs_794726698	1 SubmittersRCV000180799
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)	SNV Germline	Chr2:165992278	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303314	rs_794726760	3 SubmittersRCV000180874 RCV002515208
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)	SNV Germline	Chr2:165992290	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303545	rs_794726839	3 SubmittersRCV000180967 RCV002316981 RCV004700524
NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro)	SNV Germline	Chr2:165992341	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303527	rs_121917976	1 SubmittersRCV000180961
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)	SNV Germline	Chr2:165992342	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA303310	rs_794726759	7 SubmittersRCV000180873 RCV001090360 RCV001850418 RCV001580464 RCV001813764
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	SNV Germline	Chr2:165992369	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA303158	rs_199727342	7 SubmittersRCV000180823 RCV000188982 RCV000804066 RCV003128152
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)	SNV Germline	Chr2:165994187	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303425	rs_794726800	2 SubmittersRCV000180918 RCV002515211
NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly)	SNV Germline	Chr2:165994232	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303511	rs_764037830	1 SubmittersRCV000180954
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)	SNV Germline	Chr2:165996021	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303282	rs_794726752	7 SubmittersRCV000180863 RCV000188962 RCV002221506 RCV001382664
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)	SNV Germline	Chr2:165996045	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303535	rs_794726835	2 SubmittersRCV000180963 RCV000352668
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp)	SNV Germline	Chr2:165996047	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303318	rs_139300715	1 SubmittersRCV000180875
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)	SNV Germline	Chr2:165998102	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303462	rs_794726809	3 SubmittersRCV000180931 RCV002516539
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)	SNV Germline	Chr2:165998163	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303087	rs_794726696	2 SubmittersRCV000180797 RCV002517630
NM_001165963.4(SCN1A):c.4338+4A>C	SNV Germline	Chr2:165999719	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303222	rs_794726734	1 SubmittersRCV000180842
NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter)	SNV Germline	Chr2:165999759	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303099	rs_794726699	2 SubmittersRCV000180800 RCV005089844
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)	SNV Germline	Chr2:166002533	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303381	rs_794726784	3 SubmittersRCV000180900 RCV001527712 RCV005089846
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter)	SNV Germline	Chr2:166002568	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303259	rs_794726745	1 SubmittersRCV000180855
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu)	SNV Germline	Chr2:166002588	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303554	rs_121917986	1 SubmittersRCV000180970
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn)	SNV Germline	Chr2:166002668	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303118	rs_794726707	1 SubmittersRCV000180810
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)	SNV Germline	Chr2:166002670	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303364	rs_794726779	2 SubmittersRCV000180895 RCV002515210
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)	SNV Germline	Chr2:166002701	Pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303491	rs_794726821	3 SubmittersRCV000180946 RCV002272155 RCV001219498
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)	SNV Germline	Chr2:166002712	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303495	rs_794726822	1 SubmittersRCV000180947
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val)	SNV Germline	Chr2:166002740	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303389	rs_794726789	1 SubmittersRCV000180905
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg)	SNV Germline	Chr2:166009822	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303438	rs_146878122	2 SubmittersRCV000180922 RCV005089847
NM_001165963.4(SCN1A):c.3880-2A>G	SNV Germline	Chr2:166009843	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303483	rs_794726816	2 SubmittersRCV000180941 RCV000707470
NM_001165963.4(SCN1A):c.3879+1G>T	SNV Germline	Chr2:166012108	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303103	rs_794726700	1 SubmittersRCV000180801
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter)	SNV Germline	Chr2:166012130	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303598	rs_794726853	1 SubmittersRCV000180985
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter)	SNV Germline	Chr2:166012160	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303210	rs_794726731	1 SubmittersRCV000180839
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser)	SNV Germline	Chr2:166012167	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303594	rs_794726852	1 SubmittersRCV000180984
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)	SNV Germline	Chr2:166012170	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303550	rs_794726841	3 SubmittersRCV000180969 RCV000442784
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro)	SNV Germline	Chr2:166012225	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303188	rs_777939538	1 SubmittersRCV000180832
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter)	SNV Germline	Chr2:166012231	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303484	rs_794726817	1 SubmittersRCV000180942
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter)	SNV Germline	Chr2:166012258	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA303201	rs_794726727	2 SubmittersRCV000180836
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)	SNV Germline	Chr2:166012282	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA303346	rs_794726770	2 SubmittersRCV000180886 RCV001255366
NM_001165963.4(SCN1A):c.3705+2T>A	SNV Germline	Chr2:166013742	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303223	rs_794726735	1 SubmittersRCV000180843
NM_001165963.4(SCN1A):c.3705+1G>A	SNV Germline	Chr2:166013743	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA303258	rs_794726744	3 SubmittersRCV000180854 RCV001385514 RCV001727612
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)	SNV Germline	Chr2:166013788	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303606	rs_794726854	2 SubmittersRCV000180987 RCV001035456
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	SNV Germline	Chr2:166013812	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Seizure Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303131	rs_794726710	11 SubmittersRCV000180814 RCV000189082 RCV000585684 RCV000808766 RCV002281564 RCV002453572
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)	SNV Germline	Chr2:166013834	Pathogenic	Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303170	rs_794726720	2 SubmittersRCV000180826 RCV000624326
NM_001165963.4(SCN1A):c.3550+1G>A	SNV Germline	Chr2:166015606	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303539	rs_794726836	1 SubmittersRCV000180964
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter)	SNV Germline	Chr2:166015702	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303205	rs_794726728	1 SubmittersRCV000180837
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)	SNV Germline	Chr2:166015718	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303218	rs_794726733	2 SubmittersRCV000180841 RCV005089845
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)	SNV Germline	Chr2:166036371	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303458	rs_542420576	3 SubmittersRCV000180930 RCV000636324 RCV003441770
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu)	SNV Germline	Chr2:166036492	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA303267	rs_794726746	2 SubmittersRCV000188906 RCV000180857
NM_001165963.4(SCN1A):c.2946+1G>T	SNV Germline	Chr2:166037775	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303354	rs_794726772	3 SubmittersRCV000180888 RCV000188902 RCV001850419
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu)	SNV Germline	Chr2:166037786	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303559	rs_794726842	2 SubmittersRCV000180972 RCV002515213
NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met)	SNV Germline	Chr2:166037793	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303515	rs_794726828	1 SubmittersRCV000180955
NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe)	SNV Germline	Chr2:166037819	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303499	rs_794726823	1 SubmittersRCV000180948
NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg)	SNV Germline	Chr2:166037843	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303122	rs_794726708	1 SubmittersRCV000180811
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr)	SNV Germline	Chr2:166037846	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303149	rs_794726716	3 SubmittersRCV000180820 RCV000256008
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro)	SNV Germline	Chr2:166037885	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303197	rs_121917971	1 SubmittersRCV000180835
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro)	SNV Germline	Chr2:166037930	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303413	rs_794726718	2 SubmittersRCV000180915 RCV001376917
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)	SNV Germline	Chr2:166037930	Pathogenic	Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3	Reviewed By Expert Panel	CA303154	rs_794726718	7 SubmittersRCV000180822 RCV000763459 RCV000412755 RCV000457088 RCV002281565
NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe)	SNV Germline	Chr2:166037942	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA303467	rs_794726811	3 SubmittersRCV000180933 RCV005089848 RCV004535159
NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys)	SNV Germline	Chr2:166037994	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303174	rs_794726721	1 SubmittersRCV000180827
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser)	SNV Germline	Chr2:166038032	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303322	rs_794726761	2 SubmittersRCV000180876 RCV002515209
NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter)	SNV Germline	Chr2:166038044	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303479	rs_794726815	1 SubmittersRCV000180940
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr)	SNV Germline	Chr2:166038107	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303383	rs_794726786	2 SubmittersRCV000180902 RCV001531324
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	SNV Germline	Chr2:166038129	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided Seizure SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA303091	rs_794726697	8 SubmittersRCV000180798 RCV000530080 RCV000423112 RCV001786337 RCV004725018
NM_001165963.4(SCN1A):c.2589+3A>T	SNV Germline	Chr2:166039420	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Seizure	Criteria Provided Multiple Submitters No Conflicts	CA303357	rs_794726775	15 SubmittersRCV000180891 RCV000188876 RCV000554065 RCV003224181 RCV005624334
NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp)	SNV Germline	Chr2:166039424	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303139	rs_794726712	1 SubmittersRCV000180816
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)	SNV Germline	Chr2:166039428	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA275003	rs_397514459	7 SubmittersRCV000174714 RCV000174713 RCV001850416
NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly)	SNV Germline	Chr2:166039475	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303403	rs_794726794	1 SubmittersRCV000180911
NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp)	SNV Germline	Chr2:166039533	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303448	rs_794726805	1 SubmittersRCV000180925
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)	SNV Germline	Chr2:166041293	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA303300	rs_767045134	4 SubmittersRCV000180869 RCV001071061 RCV005243144
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)	SNV Germline	Chr2:166041343	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Reviewed By Expert Panel	CA303333	rs_794726766	5 SubmittersRCV000180882 RCV001344647 RCV003482238
NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu)	SNV Germline	Chr2:166041385	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303254	rs_794726743	1 SubmittersRCV000180853
NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu)	SNV Germline	Chr2:166041433	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303250	rs_794726742	1 SubmittersRCV000180852
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter)	SNV Germline	Chr2:166041433	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303442	rs_794726742	3 SubmittersRCV000180923 RCV000578911 RCV002515212
NM_001165963.4(SCN1A):c.2176+3T>A	SNV Germline	Chr2:166042289	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303407	rs_794726795	1 SubmittersRCV000180912
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	SNV Germline	Chr2:166042334	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy Autosomal dominant epilepsy Developmental and epileptic encephalopathy, 1 Inborn genetic diseases SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274966	rs_794726730	16 SubmittersRCV000174291 RCV000188886 RCV001004670 RCV000534243 RCV001824659 RCV001527645 RCV002515207 RCV004535158
NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter)	SNV Germline	Chr2:166042397	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303271	rs_794726747	1 SubmittersRCV000180858
NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu)	SNV Germline	Chr2:166043742	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303541	rs_794726838	1 SubmittersRCV000180966
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	SNV Germline	Chr2:166043878	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303360	rs_794726778	4 SubmittersRCV000180894 RCV000699982
NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter)	SNV Germline	Chr2:166043908	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303531	rs_794726834	1 SubmittersRCV000180962
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	SNV Germline	Chr2:166043974	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA303224	rs_794726736	7 SubmittersRCV000254957 RCV000180844 RCV000544887 RCV004528926
NM_001165963.4(SCN1A):c.1662+3A>G	SNV Germline	Chr2:166045040	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303355	rs_794726773	2 SubmittersRCV000180889 RCV001850420
NM_001165963.4(SCN1A):c.1662+1G>T	SNV Germline	Chr2:166045042	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303279	rs_794726749	1 SubmittersRCV000180860
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)	SNV Germline	Chr2:166045081	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303104	rs_138877187	7 SubmittersRCV000188870 RCV000180802 RCV000636424 RCV001004730 RCV002313015
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter)	SNV Germline	Chr2:166045189	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303393	rs_794726790	3 SubmittersRCV000180906 RCV001850421 RCV004696866
NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter)	SNV Germline	Chr2:166046802	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303453	rs_794726807	1 SubmittersRCV000180928
NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala)	SNV Germline	Chr2:166046882	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303306	rs_121917989	1 SubmittersRCV000180872
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)	SNV Germline	Chr2:166046888	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303506	rs_794726826	2 SubmittersRCV000180952 RCV001850422
NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys)	SNV Germline	Chr2:166046948	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303192	rs_794726725	1 SubmittersRCV000180833
NM_001165963.4(SCN1A):c.1170+1G>T	SNV Germline	Chr2:166047626	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303332	rs_794726765	2 SubmittersRCV000180881 RCV000433816
NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu)	SNV Germline	Chr2:166047651	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303290	rs_794726753	2 SubmittersRCV000180865 RCV001850417
NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys)	SNV Germline	Chr2:166047661	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303214	rs_794726732	1 SubmittersRCV000180840
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	SNV Germline	Chr2:166047668	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Seizure	Criteria Provided Multiple Submitters No Conflicts	CA303421	rs_794726799	9 SubmittersRCV000180917 RCV000423099 RCV000529401 RCV002274946
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)	SNV Germline	Chr2:166047721	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA303143	rs_794726713	6 SubmittersRCV000180817 RCV000329798 RCV001377988 RCV004965289
NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser)	SNV Germline	Chr2:166047725	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy, 6A	Criteria Provided Multiple Submitters No Conflicts	CA303166	rs_121917923	2 SubmittersRCV000180825 RCV003326125
NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val)	SNV Germline	Chr2:166047749	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303338	rs_794726768	1 SubmittersRCV000180884
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)	SNV Germline	Chr2:166047751	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303567	rs_794726844	2 SubmittersRCV000180974 RCV003588585
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg)	SNV Germline	Chr2:166047764	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303376	rs_794726782	2 SubmittersRCV000180898 RCV002516538
NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val)	SNV Germline	Chr2:166048889	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303409	rs_794726797	1 SubmittersRCV000180914
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser)	SNV Germline	Chr2:166048890	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303563	rs_794726843	2 SubmittersRCV000180973 RCV003228910
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)	SNV Germline	Chr2:166048907	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303417	rs_794726798	3 SubmittersRCV000180916 RCV003588584
NM_001165963.4(SCN1A):c.965-1G>A	SNV Germline	Chr2:166048950	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303503	rs_794726824	5 SubmittersRCV000180949 RCV000188853 RCV000551280 RCV002381539
NM_001165963.4(SCN1A):c.964+14T>G	SNV Germline	Chr2:166051705	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303540	rs_794726837	1 SubmittersRCV000180965
NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln)	SNV Germline	Chr2:166051857	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303576	rs_794726847	1 SubmittersRCV000180977
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg)	SNV Germline	Chr2:166051914	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA303350	rs_794726771	2 SubmittersRCV000188845 RCV000180887
NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu)	SNV Germline	Chr2:166051936	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303474	rs_773407463	2 SubmittersRCV000180938
NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr)	SNV Germline	Chr2:166051955	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303295	rs_794726755	1 SubmittersRCV000180867
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn)	SNV Germline	Chr2:166052871	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA303162	rs_794726719	2 SubmittersRCV000180824 RCV000428290
NM_001165963.4(SCN1A):c.602+3A>C	SNV Germline	Chr2:166054635	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303526	rs_794726833	1 SubmittersRCV000180960
NM_001165963.4(SCN1A):c.602+1G>T	SNV Germline	Chr2:166054637	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303510	rs_794726827	2 SubmittersRCV000180953 RCV001850423
NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val)	SNV Germline	Chr2:166054710	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303263	rs_121918770	1 SubmittersRCV000180856
NM_001165963.4(SCN1A):c.473+1G>C	SNV Germline	Chr2:166056410	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303549	rs_794726840	1 SubmittersRCV000180968
NM_001165963.4(SCN1A):c.433A>G (p.Met145Val)	SNV Germline	Chr2:166056451	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303585	rs_794726849	1 SubmittersRCV000180980
NM_001165963.4(SCN1A):c.384-1C>G	SNV Germline	Chr2:166056501	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303331	rs_794726764	1 SubmittersRCV000180880
NM_001165963.4(SCN1A):c.383+1A>G	SNV Germline	Chr2:166058569	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA303437	rs_794726803	3 SubmittersRCV000180921 RCV000824285 RCV002316980
NM_001165963.4(SCN1A):c.380A>T (p.His127Leu)	SNV Germline	Chr2:166058573	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303521	rs_794726831	1 SubmittersRCV000180958
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)	SNV Germline	Chr2:166058616	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303135	rs_794726711	3 SubmittersRCV000180815 RCV000188831 RCV000636365
NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro)	SNV Germline	Chr2:166058630	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303399	rs_794726793	1 SubmittersRCV000180910
NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile)	SNV Germline	Chr2:166058645	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303246	rs_760361423	1 SubmittersRCV000180851
NM_001165963.4(SCN1A):c.264+5G>C	SNV Germline	Chr2:166073353	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA303326	rs_794726762	2 SubmittersRCV000180877 RCV001212061
NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter)	SNV Germline	Chr2:166073501	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303232	rs_764444350	1 SubmittersRCV000180846
NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr)	SNV Germline	Chr2:166073552	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA303581	rs_794726848	1 SubmittersRCV000180979
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)	SNV Germline	Chr2:166041432	Pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA274764	rs_786205214	3 SubmittersRCV000170444 RCV000438487 RCV002288778
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)	SNV Germline	Chr2:166015676	Conflicting classifications of pathogenicity	not specified Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 SCN1A-related disorder Condition: not provided Inborn genetic diseases Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA240854	rs_201079458	8 SubmittersRCV000188914 RCV000515245 RCV001132318 RCV000724750 RCV002336423 RCV001444749
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)	SNV Germline	Chr2:166058574	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA302801	rs_148442069	8 SubmittersRCV000724565 RCV000474474 RCV000764287 RCV004734783
NM_001165963.4(SCN1A):c.602+1G>A	SNV Germline	Chr2:166054637	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Autism Seizure Global developmental delay Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy Focal impaired awareness seizure Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy, 76 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B See cases Seizure	Criteria Provided Multiple Submitters No Conflicts	CA302978	rs_794726827	17 SubmittersRCV000178154 RCV000188832 RCV001003957 RCV000768306 RCV001227678 RCV001290257 RCV001004746 RCV002281567 RCV003338449 RCV003224195 RCV004797789 RCV005624338
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)	SNV Unknown	Chr2:165998070	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA275462	rs_794729200	1 SubmittersRCV000986878
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)	SNV Germline	Chr2:165991363	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317682	rs_771936735	4 SubmittersRCV000189026 RCV001334844 RCV002514050 RCV002514051
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)	SNV Germline	Chr2:165991594	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA317649	rs_562208324	3 SubmittersRCV000189015 RCV000986869 RCV001071764
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)	SNV Germline	Chr2:165991774	Conflicting classifications of pathogenicity	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA317613	rs_780809852	8 SubmittersRCV000189005 RCV000714534 RCV000714535 RCV005089952 RCV004594027 RCV003128153
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)	SNV Germline	Chr2:165992359	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Reviewed By Expert Panel	CA317553	rs_796053029	3 SubmittersRCV000188984 RCV001244268 RCV004577517
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)	SNV Germline	Chr2:165996038	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317501	rs_372425457	5 SubmittersRCV000188964 RCV000986876 RCV001085148 RCV002317151
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	SNV Germline	Chr2:165996047	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA317493	rs_139300715	13 SubmittersRCV000188961 RCV000416525 RCV000763458 RCV001050764 RCV003448284 RCV004734834
NM_001165963.4(SCN1A):c.4476+1A>G	SNV Germline	Chr2:165998037	Pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA317467	rs_796053014	3 SubmittersRCV000201073 RCV000188953 RCV001852496
NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr)	SNV Germline	Chr2:165999748	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA317450	rs_796053010	2 SubmittersRCV001898418 RCV004804286
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)	SNV Germline	Chr2:166009736	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Inborn genetic diseases Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy, 6A	Criteria Provided Multiple Submitters No Conflicts	CA317421	rs_796053004	8 SubmittersRCV000188938 RCV000201135 RCV000622874 RCV001194614 RCV001385509 RCV002470805
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)	SNV Germline	Chr2:166009822	Conflicting classifications of pathogenicity	not specified Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317408	rs_146878122	9 SubmittersRCV000188933 RCV000724898 RCV000471568 RCV000986884 RCV001252612 RCV002314753
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)	SNV Germline	Chr2:166012138	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA317404	rs_796053001	3 SubmittersRCV000188932 RCV001375621 RCV002247609
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)	SNV Germline	Chr2:166036048	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA317359	rs_796052994	4 SubmittersRCV000188913 RCV001857648 RCV005243153
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)	SNV Germline	Chr2:166036483	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B	Criteria Provided Conflicting Classifications	CA317343	rs_796052991	4 SubmittersRCV000188907 RCV001509553 RCV002514043 RCV003448283
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter)	SNV Germline	Chr2:166037940	Pathogenic/Likely pathogenic	Condition: not provided Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA317311	rs_796052985	3 SubmittersRCV000188896 RCV003753102 RCV005025307
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)	SNV Germline	Chr2:166045101	Conflicting classifications of pathogenicity	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA317245	rs_184524479	4 SubmittersRCV000188874 RCV000585879 RCV001857646 RCV002399702
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)	SNV Germline	Chr2:166046870	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA317209	rs_796052973	5 SubmittersRCV000188864 RCV001528187 RCV001857645
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)	SNV Germline	Chr2:166046954	Conflicting classifications of pathogenicity	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA317213	rs_774937055	5 SubmittersRCV000188865 RCV001134812 RCV001320100 RCV001134813 RCV001775093
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)	SNV Germline	Chr2:166048928	Pathogenic/Likely pathogenic	Condition: not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA317185	rs_779184118	4 SubmittersRCV000188856 RCV000677680 RCV000986909
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)	SNV Germline	Chr2:166048929	Pathogenic/Likely pathogenic	Condition: not provided Intellectual disability Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA317771	rs_781746113	4 SubmittersRCV000189077 RCV001255357 RCV001857651 RCV001253376 RCV005410891
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)	SNV Germline	Chr2:166052884	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA317148	rs_796052961	2 SubmittersRCV000188840 RCV003448282
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)	SNV Germline	Chr2:166054735	Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA317134	rs_796052957	2 SubmittersRCV000188835 RCV000500830
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)	SNV Germline	Chr2:166056412	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA317752	rs_796053090	4 SubmittersRCV000189072 RCV000636394 RCV001252613
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)	SNV Germline	Chr2:166073540	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 2 SCN1A-related disorder	Criteria Provided Conflicting Classifications	CA317371	rs_754032480	5 SubmittersRCV000188919 RCV001241778 RCV002485282 RCV002225093 RCV004734833
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)	SNV Germline	Chr2:165991839	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA325468	rs_863225037	2 SubmittersRCV000201173 RCV003588599
NM_001165963.4(SCN1A):c.4477-2A>G	SNV Germline	Chr2:165996119	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA325463	rs_863225036	2 SubmittersRCV000201155 RCV001205577
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)	SNV Germline	Chr2:166002490	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA325451	rs_863225035	1 SubmittersRCV000201009
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)	SNV Germline	Chr2:166013792	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA325459	rs_863225033	1 SubmittersRCV000201129
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)	SNV Germline	Chr2:166036171	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA325469	rs_863225032	1 SubmittersRCV000201200
NM_001165963.4(SCN1A):c.1028+1G>T	SNV Germline	Chr2:166048885	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA325455	rs_863225030	2 SubmittersRCV000201025 RCV001242095
NM_001165963.4(SCN1A):c.264+5G>A	SNV Germline	Chr2:166073353	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Autosomal dominant epilepsy Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA325458	rs_794726762	6 SubmittersRCV000201121 RCV000692637 RCV002469061 RCV001197105
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)	SNV Germline	Chr2:166073373	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA325464	rs_863225031	3 SubmittersRCV000201161 RCV003588598
NM_001165963.4(SCN1A):c.4002+2451G>C	SNV Germline	Chr2:166007268	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA357199	rs_869312684	3 SubmittersRCV000209951 RCV003588600 RCV005621917
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	SNV Germline	Chr2:166044010	Pathogenic	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Inborn genetic diseases Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA10588322	rs_886039430	8 SubmittersRCV000254726 RCV000768077 RCV001198880 RCV001194613 RCV001382872 RCV003362739 RCV003224247
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)	SNV Germline	Chr2:166052885	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA10588324	rs_886039456	3 SubmittersRCV000255269 RCV000763462 RCV002521851
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)	SNV Unknown	Chr2:166048889	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA10602709	rs_794726797	1 SubmittersRCV000258942
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)	SNV Germline	Chr2:166058599	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA10602815	rs_121917959	2 SubmittersRCV000364532 RCV000986918
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)	SNV Germline	Chr2:166046883	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy SCN1A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10604358	rs_886042528	5 SubmittersRCV000314247 RCV000725185 RCV005090344 RCV004543016
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)	SNV Germline	Chr2:166046886	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA16042397	rs_781507889	3 SubmittersRCV000413776 RCV001328664
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)	SNV Germline	Chr2:165991924	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA16043651	rs_1057518671	1 SubmittersRCV000414903
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)	SNV Germline	Chr2:166044003	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16043652	rs_1057518703	4 SubmittersRCV000415450 RCV001584109 RCV001861452 RCV002402109
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)	SNV Germline	Chr2:165994184	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA16044312	rs_1057519533	1 SubmittersRCV000417022
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)	SNV Germline	Chr2:166052864	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA16044315	rs_1057519530	1 SubmittersRCV000416974
NM_001165963.4(SCN1A):c.603-2A>G	SNV Germline	Chr2:166052945	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA16044316	rs_1057519531	2 SubmittersRCV000417006 RCV002524682
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)	SNV Germline	Chr2:166288474	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory and autonomic, type 2A Generalized epilepsy with febrile seizures plus, type 7 Condition: not provided Inborn genetic diseases Primary erythromelalgia Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Primary erythromelalgia Severe myoclonic epilepsy in infancy Paroxysmal extreme pain disorder Channelopathy-associated congenital insensitivity to pain, autosomal recessive Generalized epilepsy with febrile seizures plus, type 7	Criteria Provided Conflicting Classifications	CA1944559	rs_200415928	5 SubmittersRCV000463481 RCV001755714 RCV002446880 RCV003224294 RCV005252109
NM_001165963.4(SCN1A):c.3705+5G>A	SNV Germline	Chr2:166013739	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA16610273	rs_1060502189	2 SubmittersRCV000461916 RCV000986887
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)	SNV Germline	Chr2:165992303	Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA16617285	rs_1064794766	2 SubmittersRCV000482880 RCV003221302
NM_001165963.4(SCN1A):c.2043+1G>A	SNV Germline	Chr2:166043668	Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Autosomal dominant epilepsy	Criteria Provided Multiple Submitters No Conflicts	CA1943216	rs_751533302	3 SubmittersRCV000486990 RCV002244954 RCV003987560
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp)	SNV Germline	Chr2:166045207	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA1943296	rs_141188608	5 SubmittersRCV000486171 RCV003766659 RCV004564161 RCV003989533 RCV005398685
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)	SNV Germline	Chr2:165998038	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA429892897	rs_1085307730	4 SubmittersRCV000489904 RCV001814163 RCV002526025
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)	SNV Germline	Chr2:165994211	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1942737	rs_575368466	7 SubmittersRCV000518137 RCV000690853 RCV002289705 RCV005480381
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)	SNV Germline	Chr2:166015661	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349056701	rs_368609628	3 SubmittersRCV000517686 RCV000986891 RCV001851457
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)	SNV Germline	Chr2:166038057	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349061639	rs_1266877537	3 SubmittersRCV000559503 RCV001253601 RCV001696832
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)	SNV Germline	Chr2:165992058	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Condition: not provided Developmental and epileptic encephalopathy Inborn genetic diseases Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 not specified	Criteria Provided Conflicting Classifications	CA1942686	rs_149315236	5 SubmittersRCV000768075 RCV000828050 RCV001438907 RCV002350223 RCV003224323 RCV004701623
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)	SNV Germline	Chr2:166002716	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349050737	rs_1553525325	2 SubmittersRCV000578191 RCV003588648
NM_001165963.4(SCN1A):c.4853-1G>C	SNV Germline	Chr2:165992423	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349070819	rs_1553520530	4 SubmittersRCV000578728 RCV001387750 RCV002289845
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)	SNV Germline	Chr2:166037994	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061512	rs_794726721	1 SubmittersRCV000585857
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)	SNV Germline	Chr2:166054747	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349075669	rs_1553551493	2 SubmittersRCV000585806 RCV001853962
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg)	SNV Germline	Chr2:166058615	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349076981	rs_1553553462	1 SubmittersRCV000585829
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)	SNV Germline	Chr2:165994386	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1942758	rs_780360360	7 SubmittersRCV000587898 RCV000764285 RCV001262414 RCV001337164 RCV002317333
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)	SNV Germline	Chr2:165991287	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA59797683	rs_371243629	4 SubmittersRCV000593278 RCV000636263 RCV000764281
NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter)	SNV Germline	Chr1:151683424	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341969737	rs_201966711	1 SubmittersRCV000638203
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)	SNV Germline	Chr2:166043909	Conflicting classifications of pathogenicity	Condition: not provided Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B not specified	Criteria Provided Conflicting Classifications	CA1943246	rs_139403702	4 SubmittersRCV000828047 RCV000768076 RCV001400963 RCV003224357 RCV004702227
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)	SNV Germline	Chr2:165991462	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA59797796	rs_915676341	3 SubmittersRCV000636278 RCV001089689 RCV001706692
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)	SNV Germline	Chr2:165991807	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349065960	rs_1559101839	4 SubmittersRCV000693631 RCV001200252 RCV001253286
NM_001165963.4(SCN1A):c.4581+5G>C	SNV Germline	Chr2:165996008	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA891842565	rs_1559114303	2 SubmittersRCV000692314 RCV002289971
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro)	SNV Germline	Chr2:166054683	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Conflicting Classifications	CA349075420	rs_1559245847	2 SubmittersRCV000703113 RCV004796286
NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val)	SNV Germline	Chr2:165999742	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Acute encephalopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA349049565	rs_1559122124	3 SubmittersRCV000696751 RCV001251425 RCV005620387
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)	SNV Germline	Chr2:166013838	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349056157	rs_1559149128	2 SubmittersRCV000703313 RCV000986888
NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)	SNV Germline	Chr2:166058642	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349077094	rs_1553553527	2 SubmittersRCV000687341 RCV002283507
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)	SNV Germline	Chr2:166046793	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349070329	rs_1553546668	3 SubmittersRCV000760615 RCV002500983 RCV005092189
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)	SNV Germline	Chr2:165992209	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA349069410	rs_1559104676	3 SubmittersRCV000770782 RCV001004769 RCV001216747
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)	SNV Germline	Chr2:166002623	Likely pathogenic	Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349050331	rs_1131691775	1 SubmittersRCV000850510
NM_001165963.4(SCN1A):c.265-2143G>A	SNV Germline	Chr2:166060831	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA915942935	rs_1574312497	1 SubmittersRCV000855539
NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu)	SNV Germline	Chr1:151683443	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1093613	rs_144336311	2 SubmittersRCV000879283 RCV002536812
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)	SNV Germline	Chr2:165992014	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349068336	rs_796053036	2 SubmittersRCV000986870 RCV001380827
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)	SNV Germline	Chr2:165992413	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349070729	rs_1573953706	2 SubmittersRCV000986872 RCV001206932
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)	SNV Unknown	Chr2:165994294	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071964	rs_1573963975	1 SubmittersRCV000986875
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)	SNV Germline	Chr2:165998086	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349049307	rs_1573984110	2 SubmittersRCV000986879 RCV001070314
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)	SNV Germline	Chr2:165999734	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349049554	rs_1573991676	2 SubmittersRCV000986880
NM_001165963.4(SCN1A):c.4003-1G>A	SNV Germline	Chr2:166002754	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349050905	rs_1574007140	2 SubmittersRCV000986882 RCV001869341
NM_001165963.4(SCN1A):c.3429+1G>T	SNV Germline	Chr2:166036047	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349058951	rs_1574166948	4 SubmittersRCV000986892 RCV001593162 RCV002549674
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)	SNV Unknown	Chr2:166036166	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349059329	rs_1574168611	1 SubmittersRCV000986893
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)	SNV Unknown	Chr2:166038031	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061588	rs_1574183148	1 SubmittersRCV000986895
NM_001165963.4(SCN1A):c.2415+1G>A	SNV Unknown	Chr2:166041230	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349063643	rs_886041292	1 SubmittersRCV000986897
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)	SNV Germline	Chr2:166042337	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349065788	rs_1574209023	2 SubmittersRCV000986901 RCV001382871
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)	SNV Unknown	Chr2:166045162	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349069422	rs_1553545567	1 SubmittersRCV000986905
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)	SNV Germline	Chr2:166046943	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349070987	rs_796053094	2 SubmittersRCV000986906 RCV005092969
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)	SNV Unknown	Chr2:166047720	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071317	rs_1574240716	1 SubmittersRCV000986907
NM_001165963.4(SCN1A):c.1028+1G>A	SNV Germline	Chr2:166048885	Pathogenic	Severe myoclonic epilepsy in infancy Seizure	Criteria Provided Single Submitter	CA349071536	rs_863225030	2 SubmittersRCV000986908 RCV002275232
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)	SNV Unknown	Chr2:166051741	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349072514	rs_1553549471	1 SubmittersRCV000986910
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)	SNV Germline	Chr2:166051853	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349073101	rs_1574264920	2 SubmittersRCV000986911 RCV001338678
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)	SNV Unknown	Chr2:166052863	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349074053	rs_1574271644	1 SubmittersRCV000986914
NM_001165963.4(SCN1A):c.384-12A>C	SNV Unknown	Chr2:166056512	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA915942933	rs_1574291210	1 SubmittersRCV000986917
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)	SNV Unknown	Chr2:165992360	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349070273	rs_1573953030	1 SubmittersRCV001003341
NM_001165963.4(SCN1A):c.2415+2T>C	SNV Germline	Chr2:166041229	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349063637	rs_1574201555	1 SubmittersRCV001027711
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)	SNV Germline	Chr2:166073380	Conflicting classifications of pathogenicity	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Conflicting Classifications	CA349242686	rs_1684663181	2 SubmittersRCV001030755 RCV001379829
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)	SNV Germline	Chr2:166054701	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349075494	rs_1574281711	2 SubmittersRCV001037788 RCV001089717
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val)	SNV Germline	Chr2:166051797	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Conflicting Classifications	CA1943423	rs_373772491	3 SubmittersRCV001041409 RCV002489571 RCV005415600
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)	SNV Germline	Chr2:166039490	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1943098	rs_750901301	3 SubmittersRCV001055611 RCV001729785 RCV002553797
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)	SNV Germline	Chr2:166037930	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349061364	rs_794726718	3 SubmittersRCV001038397 RCV001328666 RCV005622052
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)	SNV Germline	Chr2:166036506	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349060579	rs_1696401617	2 SubmittersRCV001068032 RCV001809976
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)	SNV Germline	Chr2:166002708	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349050699	rs_1574006637	3 SubmittersRCV001039629 RCV002283519
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)	SNV Germline	Chr2:165991507	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349064046	rs_1689139851	1 SubmittersRCV001089695
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)	SNV Germline	Chr2:165991729	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349065489	rs_1689186812	1 SubmittersRCV001089696
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)	SNV Germline	Chr2:165998086	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049305	rs_1573984110	1 SubmittersRCV001089693
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)	SNV Germline	Chr2:166002662	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349050483	rs_1691073965	2 SubmittersRCV001089990 RCV001862667
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr)	SNV Germline	Chr2:166041406	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA59791966	rs_980156920	4 SubmittersRCV001092115 RCV001362140 RCV004819237
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)	SNV Unknown	Chr2:166047686	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071194	rs_1698009615	1 SubmittersRCV001095640
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)	SNV Germline	Chr2:166036502	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349060568	rs_1696400496	2 SubmittersRCV001095667 RCV004796366
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)	SNV Unknown	Chr2:165996069	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349048709	rs_1690003122	1 SubmittersRCV001169858
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)	SNV Germline	Chr2:165999737	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349049558	rs_1690574155	2 SubmittersRCV001194674
NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter)	SNV Germline	Chr1:151658394	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA1093457	rs_770358039	2 SubmittersRCV001200362 RCV002560275
NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu)	SNV Germline	Chr2:165992285	Pathogenic/Likely pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349069850	rs_1689339718	2 SubmittersRCV001200253 RCV004761970
NM_001165963.4(SCN1A):c.1883C>A (p.Ser628Ter)	SNV Germline	Chr2:166043829	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349067369	rs_1697440060	2 SubmittersRCV001218504 RCV004594251
NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys)	SNV Germline	Chr2:165992224	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349069478	rs_1689321394	2 SubmittersRCV001212263 RCV004699130
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)	SNV Germline	Chr2:165994223	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349071572	rs_1689684958	2 SubmittersRCV001202705 RCV003992462
NM_001165963.4(SCN1A):c.3879+5G>T	SNV Germline	Chr2:166012104	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA1139657299	rs_796052999	3 SubmittersRCV001216784 RCV003142161 RCV003339537
NM_001165963.4(SCN1A):c.474-1G>A	SNV Germline	Chr2:166054767	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349075748	rs_1698962501	2 SubmittersRCV001215571 RCV003313993
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)	SNV Germline	Chr2:166015679	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1942946	rs_776752552	3 SubmittersRCV001230963 RCV002504309 RCV005268989
NM_001165963.4(SCN1A):c.2796G>A (p.Trp932Ter)	SNV Germline	Chr2:166037926	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061357	rs_1553541303	2 SubmittersRCV001229322 RCV005622083
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)	SNV Germline	Chr2:166051844	Pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2 Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA349073036	rs_1698593264	3 SubmittersRCV001233783 RCV002497799 RCV002249823
NM_001165963.4(SCN1A):c.4581+1G>A	SNV Germline	Chr2:165996012	Pathogenic	Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349048537	rs_1689986058	3 SubmittersRCV001235040 RCV002246223 RCV002290651
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)	SNV Germline	Chr2:166058608	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy Familial hemiplegic migraine Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349076939	rs_61741123	3 SubmittersRCV001249174 RCV002508953 RCV003753168
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)	SNV Germline	Chr2:166052940	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349074425	rs_374555589	1 SubmittersRCV001250741
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)	SNV Germline	Chr2:166047725	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071329	rs_121917923	1 SubmittersRCV001253422
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)	SNV Germline	Chr2:166054755	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349075694	rs_1698960532	3 SubmittersRCV001253083 RCV001879864 RCV003325310
NM_001165963.4(SCN1A):c.4581+18A>G	SNV Germline	Chr2:165995995	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA1139655698	rs_1689981394	1 SubmittersRCV001253126
NM_001165963.4(SCN1A):c.4002+1G>T	SNV Germline	Chr2:166009718	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Condition: not provided Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Multiple Submitters No Conflicts	CA349052816	rs_1692153643	3 SubmittersRCV001253084 RCV001507579 RCV001528184
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)	SNV Germline	Chr2:166036514	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349060603	rs_1696403356	1 SubmittersRCV001256670
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)	SNV Unknown	Chr2:165992095	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349068751	rs_1689278062	1 SubmittersRCV001261536
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)	SNV Germline	Chr2:166052917	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349074304	rs_1698747852	2 SubmittersRCV001262229 RCV001775164
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)	SNV Germline	Chr2:165992102	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349068793	rs_1689280236	2 SubmittersRCV001289475 RCV003753171
NM_001165963.4(SCN1A):c.1662+1G>C	SNV Germline	Chr2:166045042	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349068217	rs_794726749	2 SubmittersRCV001328665 RCV003753174
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)	SNV Germline	Chr2:166048928	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349071694	rs_779184118	3 SubmittersRCV001334845 RCV002546700 RCV004789531
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)	SNV Germline	Chr2:165991694	Pathogenic/Likely pathogenic	Seizure Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349065361	rs_760906812	3 SubmittersRCV001353143 RCV001366596 RCV005243521
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)	SNV Germline	Chr2:166047628	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA349071063	rs_746413385	2 SubmittersRCV001365999 RCV004546642
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)	SNV Germline	Chr2:166047760	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071447	rs_2105868295	1 SubmittersRCV001374630
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)	SNV Germline	Chr2:165991967	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349068196	rs_1573947939	1 SubmittersRCV001375625
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)	SNV Germline	Chr2:166013837	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349056154	rs_1553532671	2 SubmittersRCV001390716 RCV001375622
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)	SNV Germline	Chr2:166047679	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349071179	rs_1553547448	2 SubmittersRCV001375626 RCV003753177
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)	SNV Germline	Chr2:166056450	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349075975	rs_121918631	1 SubmittersRCV001375629
NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter)	SNV Germline	Chr2:166038104	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061739	rs_2105808640	2 SubmittersRCV001390158 RCV003326150
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter)	SNV Germline	Chr2:166041402	Pathogenic	Developmental and epileptic encephalopathy Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349064931	rs_1553543340	3 SubmittersRCV001381061 RCV001816000 RCV004596450
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)	SNV Germline	Chr2:166051871	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349073215	rs_2105889854	2 SubmittersRCV001384530 RCV002283547
NM_001330723.2(SNX27):c.802-4C>T	SNV Germline	Chr1:151662162	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1093500	rs_373727297	2 SubmittersRCV001393545 RCV002552662
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)	SNV Germline	Chr2:165994397	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349072336	rs_2105449751	2 SubmittersRCV001420146 RCV001865907
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)	SNV Germline	Chr2:165991975	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349068223	rs_2105429648	1 SubmittersRCV001788511
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)	SNV Germline	Chr2:166037931	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349061365	rs_121918788	3 SubmittersRCV001530193 RCV002568884
NM_001165963.4(SCN1A):c.4477-3T>A	SNV Germline	Chr2:165996120	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA2499215186	rs_1690013843	1 SubmittersRCV001533454
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)	SNV Unknown	Chr2:165991787	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349065806	rs_1553520103	1 SubmittersRCV001535823
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)	SNV Germline	Chr2:166037876	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B	Criteria Provided Multiple Submitters No Conflicts	CA349061185	rs_1696624989	4 SubmittersRCV001552269 RCV001535825 RCV003588743 RCV005429056
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)	SNV Germline	Chr2:165994146	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349071219	rs_2105447216	1 SubmittersRCV001837541
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)	SNV Germline	Chr2:166009832	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349053504	rs_1260685558	3 SubmittersRCV001588181 RCV001866210 RCV002275213
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)	SNV Unknown	Chr2:166012126	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349053910	rs_1553531134	1 SubmittersRCV001706948
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)	SNV Germline	Chr2:166046900	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349070890	rs_2105862220	2 SubmittersRCV001724786
NM_001165963.4(SCN1A):c.4284+1G>A	SNV Germline	Chr2:166002471	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349049862	rs_1553524865	1 SubmittersRCV001731221
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter)	SNV Germline	Chr2:166051843	Pathogenic	Condition: not provided Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Migraine, familial hemiplegic, 3 Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349073027	rs_1553549667	2 SubmittersRCV001784939 RCV005023255
NM_001165963.4(SCN1A):c.4582-2A>G	SNV Germline	Chr2:165994418	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Single Submitter	CA349072391	rs_2105449932	2 SubmittersRCV001794532 RCV003588768
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)	SNV Germline	Chr2:165998091	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349049328	rs_2105476084	1 SubmittersRCV001797854
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)	SNV Germline	Chr2:166051925	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349073567	rs_2105890296	1 SubmittersRCV001814639
NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val)	SNV Germline	Chr2:165999739	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3	Criteria Provided Multiple Submitters No Conflicts	CA349049563	rs_2105486615	2 SubmittersRCV001939397 RCV004796692
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)	SNV Germline	Chr2:166045248	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3	Criteria Provided Conflicting Classifications	CA1943301	rs_777120925	2 SubmittersRCV001864733 RCV002503405
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)	SNV Germline	Chr2:166036353	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349059897	rs_1553540342	2 SubmittersRCV001985326 RCV003228035
NM_001165963.4(SCN1A):c.76G>T (p.Glu26Ter)	SNV Germline	Chr2:166073546	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA60270532	rs_76921794	2 SubmittersRCV001958443 RCV005253949
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)	SNV Germline	Chr2:166051872	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349073228	rs_2105889878	3 SubmittersRCV001951947 RCV002479417 RCV005232717
NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)	SNV Germline	Chr1:151658343	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341958796	rs_2102676931	1 SubmittersRCV001997033
NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser)	SNV Germline	Chr2:166046972	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3	Criteria Provided Conflicting Classifications	CA349071043	rs_2105862926	2 SubmittersRCV001990893 RCV004796697
NM_001330723.2(SNX27):c.1426C>T (p.Arg476Ter)	SNV Germline	Chr1:151692947	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341972939	rs_1346732190	1 SubmittersRCV001877806
NM_001330723.2(SNX27):c.1431G>A (p.Trp477Ter)	SNV Germline	Chr1:151692952	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341972964	rs_574654968	1 SubmittersRCV001975053
NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly)	SNV Germline	Chr2:166058601	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349076917	rs_2105917940	1 SubmittersRCV002251785
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)	SNV Unknown	Chr2:165999743	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049570	rs_2105486716	1 SubmittersRCV002267698
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)	SNV Germline	Chr2:166037916	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061332	rs_796052988	1 SubmittersRCV002276250
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)	SNV Germline	Chr2:165994413	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349072378	rs_1553521087	1 SubmittersRCV002283736
NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)	SNV Germline	Chr2:166051848	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349073058	rs_1553549679	1 SubmittersRCV002283766
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)	SNV Germline	Chr2:165991981	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349068257	rs_1553520199	1 SubmittersRCV002283806
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)	SNV Germline	Chr2:165998096	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049338	rs_2468394208	1 SubmittersRCV002284136
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)	SNV Germline	Chr2:165998134	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349049420	rs_2468394870	2 SubmittersRCV002284137 RCV003753228
NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)	SNV Germline	Chr2:166037876	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061182	rs_1696624989	1 SubmittersRCV002284138
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)	SNV Germline	Chr2:166002578	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349050166	rs_2468435194	1 SubmittersRCV002284139
NM_001165963.4(SCN1A):c.1377+1G>A	SNV Germline	Chr2:166046769	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349070173	rs_886043864	1 SubmittersRCV002284147
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)	SNV Germline	Chr2:165992098	Pathogenic/Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349068772	rs_2105431458	2 SubmittersRCV002289212 RCV003097773
NM_001165963.4(SCN1A):c.474-2A>G	SNV Germline	Chr2:166054768	Pathogenic	Inborn genetic diseases Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349075752	rs_2468248065	2 SubmittersRCV002335526 RCV004577923
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)	SNV Germline	Chr2:165991711	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349065433	rs_1057517958	1 SubmittersRCV002463570
NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)	SNV Germline	Chr2:166048908	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071610	rs_398123578	1 SubmittersRCV002466351
NM_001165963.4(SCN1A):c.4003-4T>G	SNV Germline	Chr2:166002757	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA2580064432	rs_2468438327	1 SubmittersRCV002466354
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)	SNV Germline	Chr2:166002477	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049871	rs_1553524889	1 SubmittersRCV002468781
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)	SNV Germline	Chr2:166012151	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349054076	rs_1303080207	1 SubmittersRCV002471421
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)	SNV Germline	Chr2:165992391	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy	Criteria Provided Conflicting Classifications	CA349070551	rs_2468341232	3 SubmittersRCV002569439 RCV002510640 RCV003493962
NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg)	SNV Germline	Chr2:166002684	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349050613	rs_2468437301	2 SubmittersRCV002651541 RCV005208197
NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro)	SNV Germline	Chr2:166009739	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349052944	rs_2468493029	2 SubmittersRCV002651542 RCV005254720
NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter)	SNV Germline	Chr2:166073615	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349243507	rs_924198007	2 SubmittersRCV002651560 RCV004763552
NM_001165963.4(SCN1A):c.2589+1G>C	SNV Germline	Chr2:166039422	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349062298	rs_1057517849	1 SubmittersRCV002510675
NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)	SNV Germline	Chr1:151693013	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341973317	rs_1571881557	1 SubmittersRCV002862358
NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)	SNV Germline	Chr2:166051736	Pathogenic	Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349072489	rs_2468220881	2 SubmittersRCV002880770 RCV003483899
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)	SNV Germline	Chr2:166038002	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349061526	rs_2468098623	1 SubmittersRCV002789969
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)	SNV Germline	Chr2:166045239	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349069707	rs_1553545740	1 SubmittersRCV003128170
NM_001165963.4(SCN1A):c.1171-1G>A	SNV Germline	Chr2:166046977	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy 6B Developmental and epileptic encephalopathy Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349071055	rs_2468182873	3 SubmittersRCV003159277 RCV005100950 RCV005241257
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)	SNV Germline	Chr2:165998102	Conflicting classifications of pathogenicity	Severe myoclonic epilepsy in infancy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA349049351	rs_794726809	3 SubmittersRCV003226889 RCV003235813 RCV005273645
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)	SNV Unknown	Chr2:165998135	Likely pathogenic	Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349049423	rs_2468394894	1 SubmittersRCV003234626
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)	SNV Germline	Chr2:165992368	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349070330	rs_121917995	1 SubmittersRCV003234956
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)	SNV Germline	Chr2:165992332	Pathogenic	Condition: not provided Severe myoclonic epilepsy in infancy	Criteria Provided Multiple Submitters No Conflicts	CA349070084	rs_121918622	2 SubmittersRCV003312497 RCV004763643
NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)	SNV Germline	Chr2:166046961	Pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349071025	rs_2468182612	2 SubmittersRCV003314358 RCV003753267
NM_001165963.4(SCN1A):c.965-2A>G	SNV Unknown	Chr2:166048951	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071831	rs_2468200648	1 SubmittersRCV003459827
NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)	SNV Germline	Chr2:166041302	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349064135	rs_1574202324	1 SubmittersRCV003324608
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)	SNV Germline	Chr2:165994229	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided	CA349071613	rs_2468358829	1 SubmittersRCV003326175
NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)	SNV Germline	Chr2:166043869	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy SCN1A-related disorder Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3	Criteria Provided Conflicting Classifications	CA349067476	rs_1271824691	3 SubmittersRCV003588910 RCV004536742 RCV005021958
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)	SNV Germline	Chr2:166002632	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy	Criteria Provided Multiple Submitters No Conflicts	CA349050370	rs_2468436385	2 SubmittersRCV003455878 RCV003753295
NM_001165963.4(SCN1A):c.2415+1G>T	SNV Unknown	Chr2:166041230	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349063647	rs_886041292	1 SubmittersRCV003485998
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)	SNV Germline	Chr2:166073449	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349242938	rs_2468365428	1 SubmittersRCV003494564
NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)	SNV Germline	Chr1:151668558	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341966249	rs_2525037609	1 SubmittersRCV003508185
NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)	SNV Germline	Chr1:151692995	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA341973191	rs_2525156811	1 SubmittersRCV003616254
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)	SNV Germline	Chr2:166073381	Pathogenic	Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Single Submitter	CA349242691	rs_2468364026	1 SubmittersRCV003883276
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)	SNV Germline	Chr2:166046862	Pathogenic	Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Generalized epilepsy with febrile seizures plus, type 2 Developmental and epileptic encephalopathy 6B	Criteria Provided Single Submitter	CA349070767	rs_1455927233	1 SubmittersRCV003883365
NM_001165963.4(SCN1A):c.437C>A (p.Thr146Lys)	SNV Germline	Chr2:166056447	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349075965	rs_2468258442	1 SubmittersRCV003989929
NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)	SNV Germline	Chr2:166039580	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349062761	rs_2468115658	1 SubmittersRCV003989079
NM_001165963.4(SCN1A):c.3668T>G (p.Phe1223Cys)	SNV Germline	Chr2:166013781	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349055866	rs_2468531169	1 SubmittersRCV003990578
NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)	SNV Germline	Chr2:165992105	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349068804	rs_2468336343	1 SubmittersRCV003989364
NM_001165963.4(SCN1A):c.412A>G (p.Ile138Val)	SNV Germline	Chr2:166056472	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349076064	rs_2468258726	1 SubmittersRCV003993583
NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)	SNV Germline	Chr2:166047655	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter	CA349071128	rs_2468188755	1 SubmittersRCV003991796
NM_001165963.4(SCN1A):c.560G>C (p.Arg187Pro)	SNV Germline	Chr2:166054680	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided		rs_777631884	1 SubmittersRCV004577932
NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg)	SNV Germline	Chr2:166037853	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided		rs_1696618804	1 SubmittersRCV004577933
NM_001165963.4(SCN1A):c.4279C>A (p.Gln1427Lys)	SNV Germline	Chr2:166002477	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV004596624
NM_001165963.4(SCN1A):c.384-2A>G	SNV Germline	Chr2:166056502	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV004596625
NM_001165963.4(SCN1A):c.2808C>G (p.Asp936Glu)	SNV Germline	Chr2:166037914	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV004596626
NM_001165963.4(SCN1A):c.383+2T>C	SNV Germline	Chr2:166058568	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV004771693
NM_001165963.4(SCN1A):c.4117T>A (p.Phe1373Ile)	SNV Germline	Chr2:166002639	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV004776385
NM_001165963.4(SCN1A):c.2360T>A (p.Met787Lys)	SNV Germline	Chr2:166041286	Likely pathogenic	Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy Migraine, familial hemiplegic, 3 Developmental and epileptic encephalopathy 6B	Criteria Provided Single Submitter			1 SubmittersRCV004795495
NM_001165963.4(SCN1A):c.5080T>C (p.Tyr1694His)	SNV Unknown	Chr2:165992195	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV005001952
NM_001165963.4(SCN1A):c.5741A>C (p.Gln1914Pro)	SNV Germline	Chr2:165991534	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV005002100
NM_001330723.2(SNX27):c.1240-2A>G	SNV Germline	Chr1:151692433	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV005140163
NM_001165963.4(SCN1A):c.1037C>A (p.Pro346Gln)	SNV Germline	Chr2:166047760	Likely pathogenic	Severe myoclonic epilepsy in infancy Developmental and epileptic encephalopathy 6B Generalized epilepsy with febrile seizures plus, type 2 Febrile seizures, familial, 3a	Criteria Provided Single Submitter			1 SubmittersRCV005244159
NM_001165963.4(SCN1A):c.4576C>A (p.Pro1526Thr)	SNV Germline	Chr2:165996018	Likely pathogenic	Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus, type 2	Criteria Provided Single Submitter			1 SubmittersRCV005244162
NM_001165963.4(SCN1A):c.4003-2A>G	SNV Germline	Chr2:166002755	Likely pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV005252230
NM_001165963.4(SCN1A):c.332T>A (p.Leu111Ter)	SNV Germline	Chr2:166058621	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV005252396
NM_001165963.4(SCN1A):c.5424C>A (p.Phe1808Leu)	SNV Germline	Chr2:165991851	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV005411158
NM_001165963.4(SCN1A):c.3706G>A (p.Ala1236Thr)	SNV Unknown	Chr2:166012282	Pathogenic	Severe myoclonic epilepsy in infancy	Criteria Provided Single Submitter			1 SubmittersRCV005411174
NM_001165963.4(SCN1A):c.5366T>C (p.Phe1789Ser)	SNV Germline	Chr2:165991909	Pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided			1 SubmittersRCV005622865
NM_001165963.4(SCN1A):c.1214T>C (p.Leu405Ser)	SNV Germline	Chr2:166046933	Likely pathogenic	Severe myoclonic epilepsy in infancy	No Assertion Criteria Provided			1 SubmittersRCV005622866

NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)

SNV
Germline

Chr2:165992332

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Autosomal dominant epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA256584

rs_121918622

6 SubmittersRCV000013742 RCV000059521 RCV000484119 RCV001040793 RCV001192959

NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met)

SNV
Germline

Chr2:166038098

Pathogenic/Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 1
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Condition: not provided
Inborn genetic diseases
Seizure
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256587

rs_121918623

11 SubmittersRCV000013743 RCV000059471 RCV000686817 RCV001253103 RCV001311218 RCV002316193 RCV004554602 RCV004724740

NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)

SNV
Germline

Chr2:166052882

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy
Intellectual disability
Inborn genetic diseases
Generalized epilepsy with febrile seizures plus, type 2
Febrile seizures, familial, 3a
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA273115

rs_121918624

16 SubmittersRCV000032604 RCV000188841 RCV000763461 RCV001037392 RCV001257707 RCV002316194 RCV003388823 RCV005243098

NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)

SNV
Germline

Chr2:166036521

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA281911

rs_121918625

4 SubmittersRCV000032605 RCV000794577

NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)

SNV
Germline

Chr2:165992149

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA256611

rs_121918629

4 SubmittersRCV000013754 RCV000013755 RCV001296128

NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)

SNV
Germline

Chr2:165994167

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

No Assertion Criteria Provided

CA256614

rs_121918630

3 SubmittersRCV000013756 RCV000013757

NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)

SNV
Germline

Chr2:165992269

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA281748

rs_397514458

2 SubmittersRCV000022764 RCV001379443

NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)

SNV
Germline

Chr2:166039428

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA281752

rs_397514459

1 SubmittersRCV000022765

NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr)

SNV
Germline

Chr2:166047725

Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA284856

rs_121917923

2 SubmittersRCV000059372 RCV000997285

NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)

SNV
Germline

Chr2:166047667

Pathogenic/Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA266086

rs_121917957

7 SubmittersRCV000059374 RCV000180936 RCV000188861 RCV001775078 RCV001226020

NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser)

SNV
Germline

Chr2:166046970

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA284865

rs_121917929

2 SubmittersRCV000059376 RCV001036662

NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)

SNV
Germline

Chr2:166046970

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Intellectual disability, mild
Seizure
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA284868

rs_121917929

11 SubmittersRCV000059377 RCV000188854 RCV000554304 RCV000857236 RCV002262611

NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)

SNV
Germline

Chr2:166046969

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA284871

rs_121917927

16 SubmittersRCV000059378 RCV000188863 RCV000636386 RCV001198232 RCV005624314

NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu)

SNV
Germline

Chr2:166046940

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA284874

rs_121917966

3 SubmittersRCV000059380 RCV002345371 RCV002514305

NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)

SNV
Unknown

Chr2:166046910

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA284877

rs_121917967

3 SubmittersRCV000059381

NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly)

SNV
Germline

Chr2:166043836

Pathogenic

Generalized epilepsy
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA145235

rs_121917990

2 SubmittersRCV000059384 RCV000180909

NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg)

SNV
Germline

Chr2:166039577

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA284895

rs_121917941

2 SubmittersRCV000059390 RCV002513779

NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)

SNV
Germline

Chr2:166073371

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA284901

rs_121917964

4 SubmittersRCV000059392 RCV000255485 RCV000695650 RCV000763463

NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro)

SNV
Germline

Chr2:166037897

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA284904

rs_121917943

2 SubmittersRCV000059393 RCV005089494

NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)

SNV
Germline

Chr2:166037885

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Inborn genetic diseases
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA284910

rs_121917971

13 SubmittersRCV000059395 RCV000378734 RCV002433566 RCV000543457 RCV001004709 RCV004595905 RCV001264404

NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu)

SNV
Germline

Chr2:166037873

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA284913

rs_121917972

2 SubmittersRCV000059396 RCV000429753

NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)

SNV
Germline

Chr2:166058652

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA284919

rs_121917965

9 SubmittersRCV000059399 RCV000357692 RCV001199316 RCV000541714

NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)

SNV
Germline

Chr2:166058651

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA273119

rs_121917918

11 SubmittersRCV000059400 RCV000188829 RCV000550639 RCV001197275 RCV004796001

NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)

SNV
Germline

Chr2:166013829

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA284925

rs_121917963

3 SubmittersRCV000059403 RCV000818870 RCV002054912

NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)

SNV
Germline

Chr2:166013752

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA284928

rs_121917911

2 SubmittersRCV000059404 RCV001344646

NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)

SNV
Germline

Chr2:166012274

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA234849

rs_121917973

8 SubmittersRCV000059405 RCV000723903 RCV001476333 RCV001836728 RCV005480321

NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)

SNV
Germline

Chr2:166012254

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA284931

rs_121917912

6 SubmittersRCV000188926 RCV000059406 RCV000636387 RCV001836729 RCV004796002

NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)

SNV
Germline

Chr2:166009797

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
not specified
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA231476

rs_121917910

14 SubmittersRCV000059407 RCV000118242 RCV000188828 RCV001080063 RCV001133131 RCV001133132 RCV002313742 RCV004542732

NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)

SNV
Germline

Chr2:166002753

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA284934

rs_121917960

4 SubmittersRCV000059408 RCV001202491 RCV003352765

NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)

SNV
Germline

Chr2:166002588

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA284940

rs_121917986

9 SubmittersRCV000059411 RCV000254970 RCV000804975 RCV002326783

NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)

SNV
Germline

Chr2:166002570

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA284943

rs_121917987

2 SubmittersRCV000059412 RCV002513780

NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)

SNV
Germline

Chr2:166002491

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA284949

rs_121917913

3 SubmittersRCV000059414 RCV001048734 RCV005000993

NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)

SNV
Germline

Chr2:165999740

Likely pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Single Submitter

CA284958

rs_121917974

2 SubmittersRCV000059417 RCV001267274

NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)

SNV
Germline

Chr2:165998162

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA284961

rs_121917945

4 SubmittersRCV000059418 RCV000812820 RCV003224861

NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)

SNV
Germline

Chr2:165994370

Conflicting classifications of pathogenicity

Focal epilepsy
Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA145246

rs_121917992

6 SubmittersRCV000059424 RCV000726740 RCV003764742 RCV001333850

NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)

SNV
Germline

Chr2:165994365

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA284976

rs_121917975

5 SubmittersRCV000059425 RCV001069069 RCV001249684 RCV005251055

NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)

SNV
Germline

Chr2:165994236

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA284979

rs_121917919

3 SubmittersRCV000188974 RCV000059426 RCV000636318

NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)

SNV
Germline

Chr2:165994212

Pathogenic/Likely pathogenic

Focal epilepsy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Autosomal dominant epilepsy
Developmental and epileptic encephalopathy
Seizure
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA145250

rs_121917993

12 SubmittersRCV000059427 RCV000188978 RCV001031013 RCV002265592 RCV000794558 RCV005624315 RCV001253159

NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)

SNV
Germline

Chr2:165994176

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA284982

rs_121917915

6 SubmittersRCV000059428 RCV000636349 RCV005000994

NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)

SNV
Germline

Chr2:165992387

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA284988

rs_121917914

3 SubmittersRCV000059430 RCV001339387 RCV001781396

NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)

SNV
Germline

Chr2:165992368

Pathogenic/Likely pathogenic

Macrocephaly and epileptic encephalopathy
Developmental and epileptic encephalopathy
Condition: not provided
Inborn genetic diseases
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA145253

rs_121917995

8 SubmittersRCV000059431 RCV000463147 RCV000176634 RCV000623263 RCV002281560 RCV003448258

NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)

SNV
Germline

Chr2:165992341

Pathogenic

Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA284991

rs_121917976

8 SubmittersRCV000059432 RCV000763457 RCV000188986 RCV001198988 RCV001208285 RCV002316217

NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg)

SNV
Germline

Chr2:165992134

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA285003

rs_121917949

2 SubmittersRCV000059439 RCV004566910

NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)

SNV
Germline

Chr2:165992129

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285006

rs_121917926

3 SubmittersRCV000188987 RCV000059440 RCV005089495

NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)

SNV
Unknown

Chr2:165991990

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285012

rs_121917950

2 SubmittersRCV000059442

NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)

SNV
Germline

Chr2:165991957

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA285015

rs_121917951

2 SubmittersRCV000059443 RCV000693267

NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)

SNV
Germline

Chr2:165991936

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA285018

rs_121917952

2 SubmittersRCV000059444 RCV001854242

NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)

SNV
Germline

Chr2:165991928

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA285021

rs_121917980

10 SubmittersRCV000059445 RCV000188999 RCV001240035 RCV001849308 RCV002468563 RCV002490666

NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)

SNV
Germline

Chr2:165991927

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285024

rs_121917921

6 SubmittersRCV000059446 RCV000189000 RCV001207693

NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)

SNV
Germline

Chr2:165991510

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA285030

rs_121917981

3 SubmittersRCV000189020 RCV000059449 RCV002470754

NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)

SNV
Germline

Chr2:166054660

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided
Inborn genetic diseases
Seizure
Febrile seizures, familial, 3a
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Autosomal dominant epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA285033

rs_121917935

13 SubmittersRCV000059451 RCV000636440 RCV000522680 RCV004019070 RCV005624316 RCV005243110 RCV005406802

NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys)

SNV
Germline

Chr2:166052896

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA285039

rs_121917936

2 SubmittersRCV000059453 RCV002513781

NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)

SNV
Germline

Chr2:166052869

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy, 6A
Global developmental delay
Seizure
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA285042

rs_121917984

16 SubmittersRCV000059454 RCV000188843 RCV000558296 RCV000763460 RCV002470755 RCV001003956 RCV001420531 RCV003764743

NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)

SNV
Germline

Chr2:166052866

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285045

rs_121917937

8 SubmittersRCV000059455 RCV000188842 RCV000636408

NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr)

SNV
Germline

Chr2:166051968

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285048

rs_121917985

3 SubmittersRCV000059456 RCV003588569

NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val)

SNV
Germline

Chr2:166051967

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285051

rs_121917909

2 SubmittersRCV000059457

NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg)

SNV
Germline

Chr2:166051845

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285054

rs_121917938

3 SubmittersRCV000059459 RCV003588570

NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile)

SNV
Germline

Chr2:166048949

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA285057

rs_121917928

2 SubmittersRCV000059460 RCV000808399

NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp)

SNV
Germline

Chr2:166048886

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285060

rs_121918753

3 SubmittersRCV000059461 RCV002381374 RCV001390614

NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)

SNV
Germline

Chr2:166046931

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA248047

rs_121918768

4 SubmittersRCV000059463 RCV000180562 RCV002514306

NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)

SNV
Germline

Chr2:166045080

Conflicting classifications of pathogenicity

Autism
not specified
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Epilepsy
Self-limited epilepsy with centrotemporal spikes
Severe myoclonic epilepsy in infancy
Intellectual disability
Condition: not provided
Inborn genetic diseases
SCN1A-related disorder
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Conflicting Classifications

CA234872

rs_121918817

17 SubmittersRCV000059464 RCV000118239 RCV000475058 RCV000578859 RCV000655983 RCV000789040 RCV001252611 RCV001705717 RCV002316218 RCV004537265 RCV005394297

NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln)

SNV
Germline

Chr2:166039427

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA285069

rs_121918785

6 SubmittersRCV000059469 RCV000591357 RCV000798343

NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)

SNV
Germline

Chr2:166038098

Likely pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Single Submitter

CA285072

rs_121918623

2 SubmittersRCV000059470 RCV002247463

NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser)

SNV
Germline

Chr2:166058684

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA285078

rs_121918733

3 SubmittersRCV000059473 RCV000332135

NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr)

SNV
Germline

Chr2:166058681

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA285081

rs_121918734

4 SubmittersRCV000059474 RCV000819332 RCV003157390

NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)

SNV
Germline

Chr2:166037931

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273369

rs_121918788

7 SubmittersRCV000059475 RCV000188897 RCV000636409 RCV004542733

NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr)

SNV
Germline

Chr2:166037907

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA285087

rs_121918736

4 SubmittersRCV000059477 RCV001548630

NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala)

SNV
Germline

Chr2:166037891

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA285093

rs_121917969

2 SubmittersRCV000059479 RCV000636356

NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)

SNV
Germline

Chr2:166037886

Pathogenic

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA269785

rs_121918775

10 SubmittersRCV000189085 RCV000118240 RCV000059481 RCV000636276

NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly)

SNV
Germline

Chr2:166037868

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285099

rs_121918737

2 SubmittersRCV000059482

NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys)

SNV
Germline

Chr2:166037862

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA285102

rs_121918786

2 SubmittersRCV000059483 RCV001054726

NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)

SNV
Germline

Chr2:166037847

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285105

rs_121918796

4 SubmittersRCV000059484 RCV001387943

NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)

SNV
Germline

Chr2:166037844

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA285108

rs_121918750

3 SubmittersRCV000059485 RCV000817420 RCV002247464

NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg)

SNV
Germline

Chr2:166037787

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA285111

rs_121918754

4 SubmittersRCV000059486 RCV000519810

NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)

SNV
Germline

Chr2:166058618

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA285126

rs_121918745

4 SubmittersRCV000059492 RCV001854244 RCV000433130

NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)

SNV
Germline

Chr2:166015636

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
not specified
Epilepsy
Generalized non-motor (absence) seizure
Bilateral tonic-clonic seizure
Seizure
Self-limited epilepsy with centrotemporal spikes
Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA221580

rs_121918799

16 SubmittersRCV000059493 RCV000188915 RCV000296106 RCV000415355 RCV000655982 RCV000723551 RCV001082811 RCV000986890 RCV001129578 RCV002313744 RCV004537267

NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)

SNV
Germline

Chr2:166013820

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285129

rs_121918738

2 SubmittersRCV000059494

NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)

SNV
Germline

Chr2:166013756

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285135

rs_121918746

2 SubmittersRCV000059496

NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)

SNV
Germline

Chr2:166012210

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA285141

rs_121918739

3 SubmittersRCV000059498 RCV003137601

NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)

SNV
Germline

Chr2:166012128

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285150

rs_121918740

3 SubmittersRCV000059502 RCV001385513

NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)

SNV
Germline

Chr2:166009796

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 1
not specified
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA266111

rs_121918801

5 SubmittersRCV000059503 RCV000188936 RCV001220193 RCV001786331 RCV005243111

NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)

SNV
Germline

Chr2:166002660

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 1
Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA266114

rs_121918805

6 SubmittersRCV000059506 RCV001719807 RCV003989315 RCV004668767 RCV001381481

NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)

SNV
Germline

Chr2:165999763

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285162

rs_121918741

4 SubmittersRCV000059509 RCV000521069 RCV001067468

NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)

SNV
Germline

Chr2:165999761

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA285165

rs_121918789

4 SubmittersRCV000059510 RCV001091662 RCV001854245 RCV001253411

NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)

SNV
Germline

Chr2:165996053

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
not specified
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA285177

rs_121918764

3 SubmittersRCV000059514 RCV000517134 RCV001296129

NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)

SNV
Germline

Chr2:165994275

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA219777

rs_121918807

9 SubmittersRCV000059515 RCV001513378 RCV000986874 RCV004955268

NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)

SNV
Germline

Chr2:165994241

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285180

rs_121918742

3 SubmittersRCV000059516 RCV003588571

NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)

SNV
Germline

Chr2:165994164

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA285183

rs_121918808

5 SubmittersRCV000059517 RCV002336219 RCV005251056 RCV002054913

NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)

SNV
Germline

Chr2:165992333

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA285189

rs_121918791

5 SubmittersRCV000059520 RCV003588572 RCV003233101

NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)

SNV
Germline

Chr2:165992302

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285192

rs_121917922

4 SubmittersRCV000059523 RCV000529623

NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)

SNV
Germline

Chr2:165992293

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA285195

rs_121918797

3 SubmittersRCV000059524 RCV005401321

NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)

SNV
Germline

Chr2:165992200

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285207

rs_121918778

3 SubmittersRCV000059529 RCV002514308

NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)

SNV
Germline

Chr2:165992194

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
not specified
Developmental and epileptic encephalopathy
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA285210

rs_121918777

4 SubmittersRCV000059530 RCV000501085 RCV000465483 RCV004734623

NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr)

SNV
Germline

Chr2:166054717

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA285225

rs_121918767

3 SubmittersRCV000059536 RCV001062878 RCV005054155

NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys)

SNV
Germline

Chr2:165991933

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA285228

rs_121918779

2 SubmittersRCV000059537 RCV005089496

NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu)

SNV
Germline

Chr2:166054710

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA285231

rs_121918770

3 SubmittersRCV000059538 RCV001246264

NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)

SNV
Germline

Chr2:165991929

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA285234

rs_121918763

2 SubmittersRCV000059539

NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)

SNV
Germline

Chr2:165991892

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
not specified
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA266126

rs_121918813

4 SubmittersRCV000059540 RCV000764284 RCV000489760 RCV000792317

NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)

SNV
Germline

Chr2:165991853

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Single Submitter

CA285237

rs_121918757

3 SubmittersRCV000059541 RCV000435635

NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)

SNV
Germline

Chr2:165991841

Likely pathogenic

Severe myoclonic epilepsy in infancy
Seizure
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA206668

rs_121918751

3 SubmittersRCV000059542 RCV000193290 RCV000478850

NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)

SNV
Germline

Chr2:165991720

Pathogenic

Generalized epilepsy with febrile seizures plus, type 1
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA266129

rs_121918783

6 SubmittersRCV000059544 RCV000180879 RCV001854247 RCV005625262

NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)

SNV
Germline

Chr2:166054672

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285246

rs_121918773

4 SubmittersRCV000059548 RCV001854248

NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)

SNV
Germline

Chr2:165991549

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA285249

rs_121918793

5 SubmittersRCV000059549 RCV000494436 RCV000705871

NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)

SNV
Germline

Chr2:165991405

Conflicting classifications of pathogenicity

West syndrome
Developmental and epileptic encephalopathy
Condition: not provided
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA213190

rs_121918802

10 SubmittersRCV000059551 RCV000537890 RCV000416094 RCV000764283 RCV004019071 RCV002247465

NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn)

SNV
Germline

Chr2:166051928

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA285255

rs_121918780

3 SubmittersRCV000059552 RCV001569540 RCV005252729

NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)

SNV
Germline

Chr2:166051906

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA285258

rs_121918735

4 SubmittersRCV000059553 RCV000678837

NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)

SNV
Germline

Chr2:166051793

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA285264

rs_121918771

5 SubmittersRCV000059555 RCV001129823 RCV000997286 RCV001129824 RCV001393043

NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)

SNV
Germline

Chr2:165996047

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA357173

rs_139300715

5 SubmittersRCV000209885 RCV000702992 RCV000494091 RCV004528267

NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)

SNV
Germline

Chr2:166043875

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA266829

rs_398123585

7 SubmittersRCV000174048 RCV000255527 RCV000515441 RCV000557283

NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)

SNV
Germline

Chr2:166002537

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA266841

rs_398123593

6 SubmittersRCV000079581 RCV000636415 RCV001509554 RCV002316233

NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr)

SNV
Germline

Chr2:165992134

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA266846

rs_121917949

2 SubmittersRCV000079588 RCV001823112

NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)

SNV
Germline

Chr2:165991324

Conflicting classifications of pathogenicity

Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA221611

rs_146733308

8 SubmittersRCV000764282 RCV000723619 RCV001080157 RCV002313760 RCV004542757

NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)

SNV
Germline

Chr2:166238128

Conflicting classifications of pathogenicity

not specified
Primary erythromelalgia
Inherited Erythromelalgia
Severe myoclonic epilepsy in infancy
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 2A
Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Inborn genetic diseases
Paroxysmal extreme pain disorder
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Paroxysmal extreme pain disorder
Primary erythromelalgia
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 7
Hereditary ataxia

Criteria Provided
Conflicting Classifications

CA201784

rs_141268327

19 SubmittersRCV000176065 RCV000714847 RCV000389147 RCV000328939 RCV000335798 RCV000383539 RCV000422016 RCV000714848 RCV001080021 RCV002345422 RCV003224155 RCV005252107 RCV005625298

NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys)

SNV
Germline

Chr2:166036493

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA234856

rs_727504138

4 SubmittersRCV000153892 RCV004760399 RCV002516100

NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)

SNV
Germline

Chr2:166012255

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Inborn genetic diseases
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA273365

rs_727504136

9 SubmittersRCV000153888 RCV000188925 RCV001040173 RCV002492580 RCV002316972 RCV005624331

NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)

SNV
Germline

Chr2:166043973

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA234868

rs_544692790

6 SubmittersRCV000515440 RCV000471353 RCV000710209 RCV002408682 RCV004998305

NM_001165963.4(SCN1A):c.694+5G>C

SNV
Germline

Chr2:166052847

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA234876

rs_727504142

3 SubmittersRCV000153902 RCV000180927 RCV001362206

NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)

SNV
Germline

Chr2:165991495

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303228

rs_794726737

1 SubmittersRCV000180845

NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)

SNV
Germline

Chr2:165991601

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA303237

rs_794726739

7 SubmittersRCV000180848 RCV000189004 RCV000805798 RCV000995637 RCV002281566 RCV002505227

NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter)

SNV
Germline

Chr2:165991613

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303571

rs_794726845

2 SubmittersRCV000180975 RCV005089849

NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)

SNV
Germline

Chr2:165991619

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303286

rs_779614747

5 SubmittersRCV000180864 RCV000189014 RCV000692766

NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter)

SNV
Germline

Chr2:165991739

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303126

rs_372098964

1 SubmittersRCV000180812

NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)

SNV
Germline

Chr2:165991760

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303429

rs_794726801

2 SubmittersRCV000180919 RCV003480074

NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter)

SNV
Germline

Chr2:165991805

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303342

rs_794726769

1 SubmittersRCV000180885

NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter)

SNV
Germline

Chr2:165991814

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303372

rs_794726781

1 SubmittersRCV000180897

NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter)

SNV
Germline

Chr2:165991871

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303368

rs_794726780

1 SubmittersRCV000180896

NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly)

SNV
Germline

Chr2:165992011

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303182

rs_794726722

1 SubmittersRCV000180829

NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)

SNV
Germline

Chr2:165992053

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303327

rs_794726763

3 SubmittersRCV000188996 RCV000180878 RCV002516537

NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val)

SNV
Germline

Chr2:165992167

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303433

rs_794726802

1 SubmittersRCV000180920

NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)

SNV
Germline

Chr2:165992169

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303444

rs_794726804

1 SubmittersRCV000180924

NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter)

SNV
Germline

Chr2:165992193

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303275

rs_794726748

1 SubmittersRCV000180859

NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val)

SNV
Germline

Chr2:165992212

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303590

rs_794726851

1 SubmittersRCV000180982

NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His)

SNV
Germline

Chr2:165992261

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303241

rs_794726740

1 SubmittersRCV000180849

NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg)

SNV
Germline

Chr2:165992272

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303095

rs_794726698

1 SubmittersRCV000180799

NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)

SNV
Germline

Chr2:165992278

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303314

rs_794726760

3 SubmittersRCV000180874 RCV002515208

NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)

SNV
Germline

Chr2:165992290

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303545

rs_794726839

3 SubmittersRCV000180967 RCV002316981 RCV004700524

NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro)

SNV
Germline

Chr2:165992341

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303527

rs_121917976

1 SubmittersRCV000180961

NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)

SNV
Germline

Chr2:165992342

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA303310

rs_794726759

7 SubmittersRCV000180873 RCV001090360 RCV001850418 RCV001580464 RCV001813764

NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)

SNV
Germline

Chr2:165992369

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA303158

rs_199727342

7 SubmittersRCV000180823 RCV000188982 RCV000804066 RCV003128152

NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)

SNV
Germline

Chr2:165994187

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303425

rs_794726800

2 SubmittersRCV000180918 RCV002515211

NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly)

SNV
Germline

Chr2:165994232

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303511

rs_764037830

1 SubmittersRCV000180954

NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)

SNV
Germline

Chr2:165996021

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303282

rs_794726752

7 SubmittersRCV000180863 RCV000188962 RCV002221506 RCV001382664

NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)

SNV
Germline

Chr2:165996045

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303535

rs_794726835

2 SubmittersRCV000180963 RCV000352668

NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp)

SNV
Germline

Chr2:165996047

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303318

rs_139300715

1 SubmittersRCV000180875

NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)

SNV
Germline

Chr2:165998102

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303462

rs_794726809

3 SubmittersRCV000180931 RCV002516539

NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)

SNV
Germline

Chr2:165998163

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303087

rs_794726696

2 SubmittersRCV000180797 RCV002517630

NM_001165963.4(SCN1A):c.4338+4A>C

SNV
Germline

Chr2:165999719

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303222

rs_794726734

1 SubmittersRCV000180842

NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter)

SNV
Germline

Chr2:165999759

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303099

rs_794726699

2 SubmittersRCV000180800 RCV005089844

NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)

SNV
Germline

Chr2:166002533

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303381

rs_794726784

3 SubmittersRCV000180900 RCV001527712 RCV005089846

NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter)

SNV
Germline

Chr2:166002568

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303259

rs_794726745

1 SubmittersRCV000180855

NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu)

SNV
Germline

Chr2:166002588

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303554

rs_121917986

1 SubmittersRCV000180970

NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn)

SNV
Germline

Chr2:166002668

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303118

rs_794726707

1 SubmittersRCV000180810

NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)

SNV
Germline

Chr2:166002670

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303364

rs_794726779

2 SubmittersRCV000180895 RCV002515210

NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)

SNV
Germline

Chr2:166002701

Pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303491

rs_794726821

3 SubmittersRCV000180946 RCV002272155 RCV001219498

NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)

SNV
Germline

Chr2:166002712

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303495

rs_794726822

1 SubmittersRCV000180947

NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val)

SNV
Germline

Chr2:166002740

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303389

rs_794726789

1 SubmittersRCV000180905

NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg)

SNV
Germline

Chr2:166009822

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303438

rs_146878122

2 SubmittersRCV000180922 RCV005089847

NM_001165963.4(SCN1A):c.3880-2A>G

SNV
Germline

Chr2:166009843

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303483

rs_794726816

2 SubmittersRCV000180941 RCV000707470

NM_001165963.4(SCN1A):c.3879+1G>T

SNV
Germline

Chr2:166012108

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303103

rs_794726700

1 SubmittersRCV000180801

NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter)

SNV
Germline

Chr2:166012130

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303598

rs_794726853

1 SubmittersRCV000180985

NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter)

SNV
Germline

Chr2:166012160

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303210

rs_794726731

1 SubmittersRCV000180839

NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser)

SNV
Germline

Chr2:166012167

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303594

rs_794726852

1 SubmittersRCV000180984

NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)

SNV
Germline

Chr2:166012170

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303550

rs_794726841

3 SubmittersRCV000180969 RCV000442784

NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro)

SNV
Germline

Chr2:166012225

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303188

rs_777939538

1 SubmittersRCV000180832

NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter)

SNV
Germline

Chr2:166012231

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303484

rs_794726817

1 SubmittersRCV000180942

NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter)

SNV
Germline

Chr2:166012258

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA303201

rs_794726727

2 SubmittersRCV000180836

NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)

SNV
Germline

Chr2:166012282

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA303346

rs_794726770

2 SubmittersRCV000180886 RCV001255366

NM_001165963.4(SCN1A):c.3705+2T>A

SNV
Germline

Chr2:166013742

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303223

rs_794726735

1 SubmittersRCV000180843

NM_001165963.4(SCN1A):c.3705+1G>A

SNV
Germline

Chr2:166013743

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA303258

rs_794726744

3 SubmittersRCV000180854 RCV001385514 RCV001727612

NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)

SNV
Germline

Chr2:166013788

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303606

rs_794726854

2 SubmittersRCV000180987 RCV001035456

NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)

SNV
Germline

Chr2:166013812

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Seizure
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303131

rs_794726710

11 SubmittersRCV000180814 RCV000189082 RCV000585684 RCV000808766 RCV002281564 RCV002453572

NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)

SNV
Germline

Chr2:166013834

Pathogenic

Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303170

rs_794726720

2 SubmittersRCV000180826 RCV000624326

NM_001165963.4(SCN1A):c.3550+1G>A

SNV
Germline

Chr2:166015606

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303539

rs_794726836

1 SubmittersRCV000180964

NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter)

SNV
Germline

Chr2:166015702

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303205

rs_794726728

1 SubmittersRCV000180837

NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)

SNV
Germline

Chr2:166015718

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303218

rs_794726733

2 SubmittersRCV000180841 RCV005089845

NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)

SNV
Germline

Chr2:166036371

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303458

rs_542420576

3 SubmittersRCV000180930 RCV000636324 RCV003441770

NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu)

SNV
Germline

Chr2:166036492

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA303267

rs_794726746

2 SubmittersRCV000188906 RCV000180857

NM_001165963.4(SCN1A):c.2946+1G>T

SNV
Germline

Chr2:166037775

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303354

rs_794726772

3 SubmittersRCV000180888 RCV000188902 RCV001850419

NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu)

SNV
Germline

Chr2:166037786

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303559

rs_794726842

2 SubmittersRCV000180972 RCV002515213

NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met)

SNV
Germline

Chr2:166037793

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303515

rs_794726828

1 SubmittersRCV000180955

NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe)

SNV
Germline

Chr2:166037819

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303499

rs_794726823

1 SubmittersRCV000180948

NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg)

SNV
Germline

Chr2:166037843

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303122

rs_794726708

1 SubmittersRCV000180811

NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr)

SNV
Germline

Chr2:166037846

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303149

rs_794726716

3 SubmittersRCV000180820 RCV000256008

NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro)

SNV
Germline

Chr2:166037885

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303197

rs_121917971

1 SubmittersRCV000180835

NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro)

SNV
Germline

Chr2:166037930

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303413

rs_794726718

2 SubmittersRCV000180915 RCV001376917

NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)

SNV
Germline

Chr2:166037930

Pathogenic

Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3

Reviewed By Expert Panel

CA303154

rs_794726718

7 SubmittersRCV000180822 RCV000763459 RCV000412755 RCV000457088 RCV002281565

NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe)

SNV
Germline

Chr2:166037942

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA303467

rs_794726811

3 SubmittersRCV000180933 RCV005089848 RCV004535159

NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys)

SNV
Germline

Chr2:166037994

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303174

rs_794726721

1 SubmittersRCV000180827

NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser)

SNV
Germline

Chr2:166038032

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303322

rs_794726761

2 SubmittersRCV000180876 RCV002515209

NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter)

SNV
Germline

Chr2:166038044

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303479

rs_794726815

1 SubmittersRCV000180940

NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr)

SNV
Germline

Chr2:166038107

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303383

rs_794726786

2 SubmittersRCV000180902 RCV001531324

NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)

SNV
Germline

Chr2:166038129

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided
Seizure
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA303091

rs_794726697

8 SubmittersRCV000180798 RCV000530080 RCV000423112 RCV001786337 RCV004725018

NM_001165963.4(SCN1A):c.2589+3A>T

SNV
Germline

Chr2:166039420

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA303357

rs_794726775

15 SubmittersRCV000180891 RCV000188876 RCV000554065 RCV003224181 RCV005624334

NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp)

SNV
Germline

Chr2:166039424

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303139

rs_794726712

1 SubmittersRCV000180816

NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)

SNV
Germline

Chr2:166039428

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA275003

rs_397514459

7 SubmittersRCV000174714 RCV000174713 RCV001850416

NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly)

SNV
Germline

Chr2:166039475

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303403

rs_794726794

1 SubmittersRCV000180911

NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp)

SNV
Germline

Chr2:166039533

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303448

rs_794726805

1 SubmittersRCV000180925

NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val)

SNV
Germline

Chr2:166041293

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA303300

rs_767045134

4 SubmittersRCV000180869 RCV001071061 RCV005243144

NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)

SNV
Germline

Chr2:166041343

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Reviewed By Expert Panel

CA303333

rs_794726766

5 SubmittersRCV000180882 RCV001344647 RCV003482238

NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu)

SNV
Germline

Chr2:166041385

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303254

rs_794726743

1 SubmittersRCV000180853

NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu)

SNV
Germline

Chr2:166041433

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303250

rs_794726742

1 SubmittersRCV000180852

NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter)

SNV
Germline

Chr2:166041433

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303442

rs_794726742

3 SubmittersRCV000180923 RCV000578911 RCV002515212

NM_001165963.4(SCN1A):c.2176+3T>A

SNV
Germline

Chr2:166042289

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303407

rs_794726795

1 SubmittersRCV000180912

NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)

SNV
Germline

Chr2:166042334

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy
Autosomal dominant epilepsy
Developmental and epileptic encephalopathy, 1
Inborn genetic diseases
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274966

rs_794726730

16 SubmittersRCV000174291 RCV000188886 RCV001004670 RCV000534243 RCV001824659 RCV001527645 RCV002515207 RCV004535158

NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter)

SNV
Germline

Chr2:166042397

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303271

rs_794726747

1 SubmittersRCV000180858

NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu)

SNV
Germline

Chr2:166043742

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303541

rs_794726838

1 SubmittersRCV000180966

NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)

SNV
Germline

Chr2:166043878

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303360

rs_794726778

4 SubmittersRCV000180894 RCV000699982

NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter)

SNV
Germline

Chr2:166043908

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303531

rs_794726834

1 SubmittersRCV000180962

NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)

SNV
Germline

Chr2:166043974

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA303224

rs_794726736

7 SubmittersRCV000254957 RCV000180844 RCV000544887 RCV004528926

NM_001165963.4(SCN1A):c.1662+3A>G

SNV
Germline

Chr2:166045040

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303355

rs_794726773

2 SubmittersRCV000180889 RCV001850420

NM_001165963.4(SCN1A):c.1662+1G>T

SNV
Germline

Chr2:166045042

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303279

rs_794726749

1 SubmittersRCV000180860

NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)

SNV
Germline

Chr2:166045081

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303104

rs_138877187

7 SubmittersRCV000188870 RCV000180802 RCV000636424 RCV001004730 RCV002313015

NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter)

SNV
Germline

Chr2:166045189

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303393

rs_794726790

3 SubmittersRCV000180906 RCV001850421 RCV004696866

NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter)

SNV
Germline

Chr2:166046802

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303453

rs_794726807

1 SubmittersRCV000180928

NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala)

SNV
Germline

Chr2:166046882

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303306

rs_121917989

1 SubmittersRCV000180872

NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)

SNV
Germline

Chr2:166046888

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303506

rs_794726826

2 SubmittersRCV000180952 RCV001850422

NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys)

SNV
Germline

Chr2:166046948

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303192

rs_794726725

1 SubmittersRCV000180833

NM_001165963.4(SCN1A):c.1170+1G>T

SNV
Germline

Chr2:166047626

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303332

rs_794726765

2 SubmittersRCV000180881 RCV000433816

NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu)

SNV
Germline

Chr2:166047651

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303290

rs_794726753

2 SubmittersRCV000180865 RCV001850417

NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys)

SNV
Germline

Chr2:166047661

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303214

rs_794726732

1 SubmittersRCV000180840

NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)

SNV
Germline

Chr2:166047668

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA303421

rs_794726799

9 SubmittersRCV000180917 RCV000423099 RCV000529401 RCV002274946

NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser)

SNV
Germline

Chr2:166047721

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA303143

rs_794726713

6 SubmittersRCV000180817 RCV000329798 RCV001377988 RCV004965289

NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser)

SNV
Germline

Chr2:166047725

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA303166

rs_121917923

2 SubmittersRCV000180825 RCV003326125

NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val)

SNV
Germline

Chr2:166047749

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303338

rs_794726768

1 SubmittersRCV000180884

NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)

SNV
Germline

Chr2:166047751

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303567

rs_794726844

2 SubmittersRCV000180974 RCV003588585

NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg)

SNV
Germline

Chr2:166047764

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303376

rs_794726782

2 SubmittersRCV000180898 RCV002516538

NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val)

SNV
Germline

Chr2:166048889

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303409

rs_794726797

1 SubmittersRCV000180914

NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser)

SNV
Germline

Chr2:166048890

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303563

rs_794726843

2 SubmittersRCV000180973 RCV003228910

NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)

SNV
Germline

Chr2:166048907

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303417

rs_794726798

3 SubmittersRCV000180916 RCV003588584

NM_001165963.4(SCN1A):c.965-1G>A

SNV
Germline

Chr2:166048950

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303503

rs_794726824

5 SubmittersRCV000180949 RCV000188853 RCV000551280 RCV002381539

NM_001165963.4(SCN1A):c.964+14T>G

SNV
Germline

Chr2:166051705

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303540

rs_794726837

1 SubmittersRCV000180965

NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln)

SNV
Germline

Chr2:166051857

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303576

rs_794726847

1 SubmittersRCV000180977

NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg)

SNV
Germline

Chr2:166051914

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA303350

rs_794726771

2 SubmittersRCV000188845 RCV000180887

NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu)

SNV
Germline

Chr2:166051936

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303474

rs_773407463

2 SubmittersRCV000180938

NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr)

SNV
Germline

Chr2:166051955

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303295

rs_794726755

1 SubmittersRCV000180867

NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn)

SNV
Germline

Chr2:166052871

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA303162

rs_794726719

2 SubmittersRCV000180824 RCV000428290

NM_001165963.4(SCN1A):c.602+3A>C

SNV
Germline

Chr2:166054635

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303526

rs_794726833

1 SubmittersRCV000180960

NM_001165963.4(SCN1A):c.602+1G>T

SNV
Germline

Chr2:166054637

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303510

rs_794726827

2 SubmittersRCV000180953 RCV001850423

NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val)

SNV
Germline

Chr2:166054710

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303263

rs_121918770

1 SubmittersRCV000180856

NM_001165963.4(SCN1A):c.473+1G>C

SNV
Germline

Chr2:166056410

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303549

rs_794726840

1 SubmittersRCV000180968

NM_001165963.4(SCN1A):c.433A>G (p.Met145Val)

SNV
Germline

Chr2:166056451

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303585

rs_794726849

1 SubmittersRCV000180980

NM_001165963.4(SCN1A):c.384-1C>G

SNV
Germline

Chr2:166056501

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303331

rs_794726764

1 SubmittersRCV000180880

NM_001165963.4(SCN1A):c.383+1A>G

SNV
Germline

Chr2:166058569

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA303437

rs_794726803

3 SubmittersRCV000180921 RCV000824285 RCV002316980

NM_001165963.4(SCN1A):c.380A>T (p.His127Leu)

SNV
Germline

Chr2:166058573

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303521

rs_794726831

1 SubmittersRCV000180958

NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)

SNV
Germline

Chr2:166058616

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303135

rs_794726711

3 SubmittersRCV000180815 RCV000188831 RCV000636365

NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro)

SNV
Germline

Chr2:166058630

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303399

rs_794726793

1 SubmittersRCV000180910

NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile)

SNV
Germline

Chr2:166058645

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303246

rs_760361423

1 SubmittersRCV000180851

NM_001165963.4(SCN1A):c.264+5G>C

SNV
Germline

Chr2:166073353

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA303326

rs_794726762

2 SubmittersRCV000180877 RCV001212061

NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter)

SNV
Germline

Chr2:166073501

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303232

rs_764444350

1 SubmittersRCV000180846

NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr)

SNV
Germline

Chr2:166073552

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA303581

rs_794726848

1 SubmittersRCV000180979

NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)

SNV
Germline

Chr2:166041432

Pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA274764

rs_786205214

3 SubmittersRCV000170444 RCV000438487 RCV002288778

NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)

SNV
Germline

Chr2:166015676

Conflicting classifications of pathogenicity

not specified
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
SCN1A-related disorder
Condition: not provided
Inborn genetic diseases
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA240854

rs_201079458

8 SubmittersRCV000188914 RCV000515245 RCV001132318 RCV000724750 RCV002336423 RCV001444749

NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)

SNV
Germline

Chr2:166058574

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA302801

rs_148442069

8 SubmittersRCV000724565 RCV000474474 RCV000764287 RCV004734783

NM_001165963.4(SCN1A):c.602+1G>A

SNV
Germline

Chr2:166054637

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Autism
Seizure
Global developmental delay
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy
Focal impaired awareness seizure
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy, 76
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
See cases
Seizure

Criteria Provided
Multiple Submitters
No Conflicts

CA302978

rs_794726827

17 SubmittersRCV000178154 RCV000188832 RCV001003957 RCV000768306 RCV001227678 RCV001290257 RCV001004746 RCV002281567 RCV003338449 RCV003224195 RCV004797789 RCV005624338

NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)

SNV
Unknown

Chr2:165998070

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA275462

rs_794729200

1 SubmittersRCV000986878

NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)

SNV
Germline

Chr2:165991363

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317682

rs_771936735

4 SubmittersRCV000189026 RCV001334844 RCV002514050 RCV002514051

NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)

SNV
Germline

Chr2:165991594

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA317649

rs_562208324

3 SubmittersRCV000189015 RCV000986869 RCV001071764

NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)

SNV
Germline

Chr2:165991774

Conflicting classifications of pathogenicity

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA317613

rs_780809852

8 SubmittersRCV000189005 RCV000714534 RCV000714535 RCV005089952 RCV004594027 RCV003128153

NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)

SNV
Germline

Chr2:165992359

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Reviewed By Expert Panel

CA317553

rs_796053029

3 SubmittersRCV000188984 RCV001244268 RCV004577517

NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)

SNV
Germline

Chr2:165996038

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317501

rs_372425457

5 SubmittersRCV000188964 RCV000986876 RCV001085148 RCV002317151

NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)

SNV
Germline

Chr2:165996047

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA317493

rs_139300715

13 SubmittersRCV000188961 RCV000416525 RCV000763458 RCV001050764 RCV003448284 RCV004734834

NM_001165963.4(SCN1A):c.4476+1A>G

SNV
Germline

Chr2:165998037

Pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA317467

rs_796053014

3 SubmittersRCV000201073 RCV000188953 RCV001852496

NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr)

SNV
Germline

Chr2:165999748

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA317450

rs_796053010

2 SubmittersRCV001898418 RCV004804286

NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)

SNV
Germline

Chr2:166009736

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Inborn genetic diseases
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy, 6A

Criteria Provided
Multiple Submitters
No Conflicts

CA317421

rs_796053004

8 SubmittersRCV000188938 RCV000201135 RCV000622874 RCV001194614 RCV001385509 RCV002470805

NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)

SNV
Germline

Chr2:166009822

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317408

rs_146878122

9 SubmittersRCV000188933 RCV000724898 RCV000471568 RCV000986884 RCV001252612 RCV002314753

NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)

SNV
Germline

Chr2:166012138

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA317404

rs_796053001

3 SubmittersRCV000188932 RCV001375621 RCV002247609

NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)

SNV
Germline

Chr2:166036048

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA317359

rs_796052994

4 SubmittersRCV000188913 RCV001857648 RCV005243153

NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)

SNV
Germline

Chr2:166036483

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B

Criteria Provided
Conflicting Classifications

CA317343

rs_796052991

4 SubmittersRCV000188907 RCV001509553 RCV002514043 RCV003448283

NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter)

SNV
Germline

Chr2:166037940

Pathogenic/Likely pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA317311

rs_796052985

3 SubmittersRCV000188896 RCV003753102 RCV005025307

NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)

SNV
Germline

Chr2:166045101

Conflicting classifications of pathogenicity

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA317245

rs_184524479

4 SubmittersRCV000188874 RCV000585879 RCV001857646 RCV002399702

NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)

SNV
Germline

Chr2:166046870

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA317209

rs_796052973

5 SubmittersRCV000188864 RCV001528187 RCV001857645

NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)

SNV
Germline

Chr2:166046954

Conflicting classifications of pathogenicity

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA317213

rs_774937055

5 SubmittersRCV000188865 RCV001134812 RCV001320100 RCV001134813 RCV001775093

NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)

SNV
Germline

Chr2:166048928

Pathogenic/Likely pathogenic

Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA317185

rs_779184118

4 SubmittersRCV000188856 RCV000677680 RCV000986909

NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)

SNV
Germline

Chr2:166048929

Pathogenic/Likely pathogenic

Condition: not provided
Intellectual disability
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA317771

rs_781746113

4 SubmittersRCV000189077 RCV001255357 RCV001857651 RCV001253376 RCV005410891

NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)

SNV
Germline

Chr2:166052884

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA317148

rs_796052961

2 SubmittersRCV000188840 RCV003448282

NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)

SNV
Germline

Chr2:166054735

Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA317134

rs_796052957

2 SubmittersRCV000188835 RCV000500830

NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)

SNV
Germline

Chr2:166056412

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA317752

rs_796053090

4 SubmittersRCV000189072 RCV000636394 RCV001252613

NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)

SNV
Germline

Chr2:166073540

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2
SCN1A-related disorder

Criteria Provided
Conflicting Classifications

CA317371

rs_754032480

5 SubmittersRCV000188919 RCV001241778 RCV002485282 RCV002225093 RCV004734833

NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)

SNV
Germline

Chr2:165991839

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA325468

rs_863225037

2 SubmittersRCV000201173 RCV003588599

NM_001165963.4(SCN1A):c.4477-2A>G

SNV
Germline

Chr2:165996119

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA325463

rs_863225036

2 SubmittersRCV000201155 RCV001205577

NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)

SNV
Germline

Chr2:166002490

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA325451

rs_863225035

1 SubmittersRCV000201009

NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)

SNV
Germline

Chr2:166013792

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA325459

rs_863225033

1 SubmittersRCV000201129

NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)

SNV
Germline

Chr2:166036171

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA325469

rs_863225032

1 SubmittersRCV000201200

NM_001165963.4(SCN1A):c.1028+1G>T

SNV
Germline

Chr2:166048885

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA325455

rs_863225030

2 SubmittersRCV000201025 RCV001242095

NM_001165963.4(SCN1A):c.264+5G>A

SNV
Germline

Chr2:166073353

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Autosomal dominant epilepsy
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA325458

rs_794726762

6 SubmittersRCV000201121 RCV000692637 RCV002469061 RCV001197105

NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter)

SNV
Germline

Chr2:166073373

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA325464

rs_863225031

3 SubmittersRCV000201161 RCV003588598

NM_001165963.4(SCN1A):c.4002+2451G>C

SNV
Germline

Chr2:166007268

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA357199

rs_869312684

3 SubmittersRCV000209951 RCV003588600 RCV005621917

NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)

SNV
Germline

Chr2:166044010

Pathogenic

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Inborn genetic diseases
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10588322

rs_886039430

8 SubmittersRCV000254726 RCV000768077 RCV001198880 RCV001194613 RCV001382872 RCV003362739 RCV003224247

NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)

SNV
Germline

Chr2:166052885

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA10588324

rs_886039456

3 SubmittersRCV000255269 RCV000763462 RCV002521851

NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)

SNV
Unknown

Chr2:166048889

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA10602709

rs_794726797

1 SubmittersRCV000258942

NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)

SNV
Germline

Chr2:166058599

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602815

rs_121917959

2 SubmittersRCV000364532 RCV000986918

NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)

SNV
Germline

Chr2:166046883

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy
SCN1A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10604358

rs_886042528

5 SubmittersRCV000314247 RCV000725185 RCV005090344 RCV004543016

NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)

SNV
Germline

Chr2:166046886

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042397

rs_781507889

3 SubmittersRCV000413776 RCV001328664

NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)

SNV
Germline

Chr2:165991924

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA16043651

rs_1057518671

1 SubmittersRCV000414903

NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)

SNV
Germline

Chr2:166044003

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16043652

rs_1057518703

4 SubmittersRCV000415450 RCV001584109 RCV001861452 RCV002402109

NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)

SNV
Germline

Chr2:165994184

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA16044312

rs_1057519533

1 SubmittersRCV000417022

NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)

SNV
Germline

Chr2:166052864

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA16044315

rs_1057519530

1 SubmittersRCV000416974

NM_001165963.4(SCN1A):c.603-2A>G

SNV
Germline

Chr2:166052945

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA16044316

rs_1057519531

2 SubmittersRCV000417006 RCV002524682

NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)

SNV
Germline

Chr2:166288474

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory and autonomic, type 2A
Generalized epilepsy with febrile seizures plus, type 7
Condition: not provided
Inborn genetic diseases
Primary erythromelalgia
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Primary erythromelalgia
Severe myoclonic epilepsy in infancy
Paroxysmal extreme pain disorder
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Generalized epilepsy with febrile seizures plus, type 7

Criteria Provided
Conflicting Classifications

CA1944559

rs_200415928

5 SubmittersRCV000463481 RCV001755714 RCV002446880 RCV003224294 RCV005252109

NM_001165963.4(SCN1A):c.3705+5G>A

SNV
Germline

Chr2:166013739

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA16610273

rs_1060502189

2 SubmittersRCV000461916 RCV000986887

NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)

SNV
Germline

Chr2:165992303

Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA16617285

rs_1064794766

2 SubmittersRCV000482880 RCV003221302

NM_001165963.4(SCN1A):c.2043+1G>A

SNV
Germline

Chr2:166043668

Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Autosomal dominant epilepsy

Criteria Provided
Multiple Submitters
No Conflicts

CA1943216

rs_751533302

3 SubmittersRCV000486990 RCV002244954 RCV003987560

NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp)

SNV
Germline

Chr2:166045207

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA1943296

rs_141188608

5 SubmittersRCV000486171 RCV003766659 RCV004564161 RCV003989533 RCV005398685

NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)

SNV
Germline

Chr2:165998038

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA429892897

rs_1085307730

4 SubmittersRCV000489904 RCV001814163 RCV002526025

NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)

SNV
Germline

Chr2:165994211

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1942737

rs_575368466

7 SubmittersRCV000518137 RCV000690853 RCV002289705 RCV005480381

NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)

SNV
Germline

Chr2:166015661

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349056701

rs_368609628

3 SubmittersRCV000517686 RCV000986891 RCV001851457

NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)

SNV
Germline

Chr2:166038057

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349061639

rs_1266877537

3 SubmittersRCV000559503 RCV001253601 RCV001696832

NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)

SNV
Germline

Chr2:165992058

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Condition: not provided
Developmental and epileptic encephalopathy
Inborn genetic diseases
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
not specified

Criteria Provided
Conflicting Classifications

CA1942686

rs_149315236

5 SubmittersRCV000768075 RCV000828050 RCV001438907 RCV002350223 RCV003224323 RCV004701623

NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)

SNV
Germline

Chr2:166002716

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349050737

rs_1553525325

2 SubmittersRCV000578191 RCV003588648

NM_001165963.4(SCN1A):c.4853-1G>C

SNV
Germline

Chr2:165992423

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070819

rs_1553520530

4 SubmittersRCV000578728 RCV001387750 RCV002289845

NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)

SNV
Germline

Chr2:166037994

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061512

rs_794726721

1 SubmittersRCV000585857

NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)

SNV
Germline

Chr2:166054747

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349075669

rs_1553551493

2 SubmittersRCV000585806 RCV001853962

NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg)

SNV
Germline

Chr2:166058615

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349076981

rs_1553553462

1 SubmittersRCV000585829

NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)

SNV
Germline

Chr2:165994386

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1942758

rs_780360360

7 SubmittersRCV000587898 RCV000764285 RCV001262414 RCV001337164 RCV002317333

NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)

SNV
Germline

Chr2:165991287

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA59797683

rs_371243629

4 SubmittersRCV000593278 RCV000636263 RCV000764281

NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter)

SNV
Germline

Chr1:151683424

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341969737

rs_201966711

1 SubmittersRCV000638203

NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)

SNV
Germline

Chr2:166043909

Conflicting classifications of pathogenicity

Condition: not provided
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
not specified

Criteria Provided
Conflicting Classifications

CA1943246

rs_139403702

4 SubmittersRCV000828047 RCV000768076 RCV001400963 RCV003224357 RCV004702227

NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)

SNV
Germline

Chr2:165991462

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA59797796

rs_915676341

3 SubmittersRCV000636278 RCV001089689 RCV001706692

NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)

SNV
Germline

Chr2:165991807

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349065960

rs_1559101839

4 SubmittersRCV000693631 RCV001200252 RCV001253286

NM_001165963.4(SCN1A):c.4581+5G>C

SNV
Germline

Chr2:165996008

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA891842565

rs_1559114303

2 SubmittersRCV000692314 RCV002289971

NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro)

SNV
Germline

Chr2:166054683

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Conflicting Classifications

CA349075420

rs_1559245847

2 SubmittersRCV000703113 RCV004796286

NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val)

SNV
Germline

Chr2:165999742

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Acute encephalopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349049565

rs_1559122124

3 SubmittersRCV000696751 RCV001251425 RCV005620387

NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

SNV
Germline

Chr2:166013838

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349056157

rs_1559149128

2 SubmittersRCV000703313 RCV000986888

NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp)

SNV
Germline

Chr2:166058642

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349077094

rs_1553553527

2 SubmittersRCV000687341 RCV002283507

NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter)

SNV
Germline

Chr2:166046793

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070329

rs_1553546668

3 SubmittersRCV000760615 RCV002500983 RCV005092189

NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)

SNV
Germline

Chr2:165992209

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA349069410

rs_1559104676

3 SubmittersRCV000770782 RCV001004769 RCV001216747

NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)

SNV
Germline

Chr2:166002623

Likely pathogenic

Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349050331

rs_1131691775

1 SubmittersRCV000850510

NM_001165963.4(SCN1A):c.265-2143G>A

SNV
Germline

Chr2:166060831

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA915942935

rs_1574312497

1 SubmittersRCV000855539

NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu)

SNV
Germline

Chr1:151683443

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1093613

rs_144336311

2 SubmittersRCV000879283 RCV002536812

NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)

SNV
Germline

Chr2:165992014

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349068336

rs_796053036

2 SubmittersRCV000986870 RCV001380827

NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)

SNV
Germline

Chr2:165992413

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070729

rs_1573953706

2 SubmittersRCV000986872 RCV001206932

NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)

SNV
Unknown

Chr2:165994294

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071964

rs_1573963975

1 SubmittersRCV000986875

NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)

SNV
Germline

Chr2:165998086

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349049307

rs_1573984110

2 SubmittersRCV000986879 RCV001070314

NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)

SNV
Germline

Chr2:165999734

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349049554

rs_1573991676

2 SubmittersRCV000986880

NM_001165963.4(SCN1A):c.4003-1G>A

SNV
Germline

Chr2:166002754

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349050905

rs_1574007140

2 SubmittersRCV000986882 RCV001869341

NM_001165963.4(SCN1A):c.3429+1G>T

SNV
Germline

Chr2:166036047

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349058951

rs_1574166948

4 SubmittersRCV000986892 RCV001593162 RCV002549674

NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)

SNV
Unknown

Chr2:166036166

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349059329

rs_1574168611

1 SubmittersRCV000986893

NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)

SNV
Unknown

Chr2:166038031

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061588

rs_1574183148

1 SubmittersRCV000986895

NM_001165963.4(SCN1A):c.2415+1G>A

SNV
Unknown

Chr2:166041230

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349063643

rs_886041292

1 SubmittersRCV000986897

NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)

SNV
Germline

Chr2:166042337

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349065788

rs_1574209023

2 SubmittersRCV000986901 RCV001382871

NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)

SNV
Unknown

Chr2:166045162

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349069422

rs_1553545567

1 SubmittersRCV000986905

NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)

SNV
Germline

Chr2:166046943

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070987

rs_796053094

2 SubmittersRCV000986906 RCV005092969

NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)

SNV
Unknown

Chr2:166047720

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071317

rs_1574240716

1 SubmittersRCV000986907

NM_001165963.4(SCN1A):c.1028+1G>A

SNV
Germline

Chr2:166048885

Pathogenic

Severe myoclonic epilepsy in infancy
Seizure

Criteria Provided
Single Submitter

CA349071536

rs_863225030

2 SubmittersRCV000986908 RCV002275232

NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)

SNV
Unknown

Chr2:166051741

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349072514

rs_1553549471

1 SubmittersRCV000986910

NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)

SNV
Germline

Chr2:166051853

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349073101

rs_1574264920

2 SubmittersRCV000986911 RCV001338678

NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)

SNV
Unknown

Chr2:166052863

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349074053

rs_1574271644

1 SubmittersRCV000986914

NM_001165963.4(SCN1A):c.384-12A>C

SNV
Unknown

Chr2:166056512

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA915942933

rs_1574291210

1 SubmittersRCV000986917

NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)

SNV
Unknown

Chr2:165992360

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349070273

rs_1573953030

1 SubmittersRCV001003341

NM_001165963.4(SCN1A):c.2415+2T>C

SNV
Germline

Chr2:166041229

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349063637

rs_1574201555

1 SubmittersRCV001027711

NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)

SNV
Germline

Chr2:166073380

Conflicting classifications of pathogenicity

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Conflicting Classifications

CA349242686

rs_1684663181

2 SubmittersRCV001030755 RCV001379829

NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)

SNV
Germline

Chr2:166054701

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349075494

rs_1574281711

2 SubmittersRCV001037788 RCV001089717

NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val)

SNV
Germline

Chr2:166051797

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1943423

rs_373772491

3 SubmittersRCV001041409 RCV002489571 RCV005415600

NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)

SNV
Germline

Chr2:166039490

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1943098

rs_750901301

3 SubmittersRCV001055611 RCV001729785 RCV002553797

NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)

SNV
Germline

Chr2:166037930

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349061364

rs_794726718

3 SubmittersRCV001038397 RCV001328666 RCV005622052

NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)

SNV
Germline

Chr2:166036506

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349060579

rs_1696401617

2 SubmittersRCV001068032 RCV001809976

NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)

SNV
Germline

Chr2:166002708

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349050699

rs_1574006637

3 SubmittersRCV001039629 RCV002283519

NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)

SNV
Germline

Chr2:165991507

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349064046

rs_1689139851

1 SubmittersRCV001089695

NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)

SNV
Germline

Chr2:165991729

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349065489

rs_1689186812

1 SubmittersRCV001089696

NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)

SNV
Germline

Chr2:165998086

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049305

rs_1573984110

1 SubmittersRCV001089693

NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)

SNV
Germline

Chr2:166002662

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349050483

rs_1691073965

2 SubmittersRCV001089990 RCV001862667

NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr)

SNV
Germline

Chr2:166041406

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA59791966

rs_980156920

4 SubmittersRCV001092115 RCV001362140 RCV004819237

NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)

SNV
Unknown

Chr2:166047686

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071194

rs_1698009615

1 SubmittersRCV001095640

NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)

SNV
Germline

Chr2:166036502

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349060568

rs_1696400496

2 SubmittersRCV001095667 RCV004796366

NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)

SNV
Unknown

Chr2:165996069

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349048709

rs_1690003122

1 SubmittersRCV001169858

NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)

SNV
Germline

Chr2:165999737

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349049558

rs_1690574155

2 SubmittersRCV001194674

NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter)

SNV
Germline

Chr1:151658394

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA1093457

rs_770358039

2 SubmittersRCV001200362 RCV002560275

NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu)

SNV
Germline

Chr2:165992285

Pathogenic/Likely pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349069850

rs_1689339718

2 SubmittersRCV001200253 RCV004761970

NM_001165963.4(SCN1A):c.1883C>A (p.Ser628Ter)

SNV
Germline

Chr2:166043829

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349067369

rs_1697440060

2 SubmittersRCV001218504 RCV004594251

NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys)

SNV
Germline

Chr2:165992224

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349069478

rs_1689321394

2 SubmittersRCV001212263 RCV004699130

NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)

SNV
Germline

Chr2:165994223

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349071572

rs_1689684958

2 SubmittersRCV001202705 RCV003992462

NM_001165963.4(SCN1A):c.3879+5G>T

SNV
Germline

Chr2:166012104

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA1139657299

rs_796052999

3 SubmittersRCV001216784 RCV003142161 RCV003339537

NM_001165963.4(SCN1A):c.474-1G>A

SNV
Germline

Chr2:166054767

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349075748

rs_1698962501

2 SubmittersRCV001215571 RCV003313993

NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)

SNV
Germline

Chr2:166015679

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1942946

rs_776752552

3 SubmittersRCV001230963 RCV002504309 RCV005268989

NM_001165963.4(SCN1A):c.2796G>A (p.Trp932Ter)

SNV
Germline

Chr2:166037926

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061357

rs_1553541303

2 SubmittersRCV001229322 RCV005622083

NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)

SNV
Germline

Chr2:166051844

Pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349073036

rs_1698593264

3 SubmittersRCV001233783 RCV002497799 RCV002249823

NM_001165963.4(SCN1A):c.4581+1G>A

SNV
Germline

Chr2:165996012

Pathogenic

Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349048537

rs_1689986058

3 SubmittersRCV001235040 RCV002246223 RCV002290651

NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)

SNV
Germline

Chr2:166058608

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus
Severe myoclonic epilepsy in infancy
Familial hemiplegic migraine
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349076939

rs_61741123

3 SubmittersRCV001249174 RCV002508953 RCV003753168

NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)

SNV
Germline

Chr2:166052940

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349074425

rs_374555589

1 SubmittersRCV001250741

NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)

SNV
Germline

Chr2:166047725

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071329

rs_121917923

1 SubmittersRCV001253422

NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)

SNV
Germline

Chr2:166054755

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349075694

rs_1698960532

3 SubmittersRCV001253083 RCV001879864 RCV003325310

NM_001165963.4(SCN1A):c.4581+18A>G

SNV
Germline

Chr2:165995995

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA1139655698

rs_1689981394

1 SubmittersRCV001253126

NM_001165963.4(SCN1A):c.4002+1G>T

SNV
Germline

Chr2:166009718

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Condition: not provided
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA349052816

rs_1692153643

3 SubmittersRCV001253084 RCV001507579 RCV001528184

NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)

SNV
Germline

Chr2:166036514

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349060603

rs_1696403356

1 SubmittersRCV001256670

NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)

SNV
Unknown

Chr2:165992095

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349068751

rs_1689278062

1 SubmittersRCV001261536

NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)

SNV
Germline

Chr2:166052917

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349074304

rs_1698747852

2 SubmittersRCV001262229 RCV001775164

NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)

SNV
Germline

Chr2:165992102

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349068793

rs_1689280236

2 SubmittersRCV001289475 RCV003753171

NM_001165963.4(SCN1A):c.1662+1G>C

SNV
Germline

Chr2:166045042

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349068217

rs_794726749

2 SubmittersRCV001328665 RCV003753174

NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)

SNV
Germline

Chr2:166048928

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349071694

rs_779184118

3 SubmittersRCV001334845 RCV002546700 RCV004789531

NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)

SNV
Germline

Chr2:165991694

Pathogenic/Likely pathogenic

Seizure
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349065361

rs_760906812

3 SubmittersRCV001353143 RCV001366596 RCV005243521

NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)

SNV
Germline

Chr2:166047628

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA349071063

rs_746413385

2 SubmittersRCV001365999 RCV004546642

NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)

SNV
Germline

Chr2:166047760

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071447

rs_2105868295

1 SubmittersRCV001374630

NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)

SNV
Germline

Chr2:165991967

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349068196

rs_1573947939

1 SubmittersRCV001375625

NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)

SNV
Germline

Chr2:166013837

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349056154

rs_1553532671

2 SubmittersRCV001390716 RCV001375622

NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)

SNV
Germline

Chr2:166047679

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349071179

rs_1553547448

2 SubmittersRCV001375626 RCV003753177

NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)

SNV
Germline

Chr2:166056450

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349075975

rs_121918631

1 SubmittersRCV001375629

NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter)

SNV
Germline

Chr2:166038104

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061739

rs_2105808640

2 SubmittersRCV001390158 RCV003326150

NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter)

SNV
Germline

Chr2:166041402

Pathogenic

Developmental and epileptic encephalopathy
Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349064931

rs_1553543340

3 SubmittersRCV001381061 RCV001816000 RCV004596450

NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)

SNV
Germline

Chr2:166051871

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349073215

rs_2105889854

2 SubmittersRCV001384530 RCV002283547

NM_001330723.2(SNX27):c.802-4C>T

SNV
Germline

Chr1:151662162

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1093500

rs_373727297

2 SubmittersRCV001393545 RCV002552662

NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)

SNV
Germline

Chr2:165994397

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349072336

rs_2105449751

2 SubmittersRCV001420146 RCV001865907

NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)

SNV
Germline

Chr2:165991975

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349068223

rs_2105429648

1 SubmittersRCV001788511

NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)

SNV
Germline

Chr2:166037931

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349061365

rs_121918788

3 SubmittersRCV001530193 RCV002568884

NM_001165963.4(SCN1A):c.4477-3T>A

SNV
Germline

Chr2:165996120

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA2499215186

rs_1690013843

1 SubmittersRCV001533454

NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)

SNV
Unknown

Chr2:165991787

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349065806

rs_1553520103

1 SubmittersRCV001535823

NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)

SNV
Germline

Chr2:166037876

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B

Criteria Provided
Multiple Submitters
No Conflicts

CA349061185

rs_1696624989

4 SubmittersRCV001552269 RCV001535825 RCV003588743 RCV005429056

NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)

SNV
Germline

Chr2:165994146

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349071219

rs_2105447216

1 SubmittersRCV001837541

NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)

SNV
Germline

Chr2:166009832

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349053504

rs_1260685558

3 SubmittersRCV001588181 RCV001866210 RCV002275213

NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)

SNV
Unknown

Chr2:166012126

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349053910

rs_1553531134

1 SubmittersRCV001706948

NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)

SNV
Germline

Chr2:166046900

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070890

rs_2105862220

2 SubmittersRCV001724786

NM_001165963.4(SCN1A):c.4284+1G>A

SNV
Germline

Chr2:166002471

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349049862

rs_1553524865

1 SubmittersRCV001731221

NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter)

SNV
Germline

Chr2:166051843

Pathogenic

Condition: not provided
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Migraine, familial hemiplegic, 3
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349073027

rs_1553549667

2 SubmittersRCV001784939 RCV005023255

NM_001165963.4(SCN1A):c.4582-2A>G

SNV
Germline

Chr2:165994418

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Single Submitter

CA349072391

rs_2105449932

2 SubmittersRCV001794532 RCV003588768

NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)

SNV
Germline

Chr2:165998091

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349049328

rs_2105476084

1 SubmittersRCV001797854

NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)

SNV
Germline

Chr2:166051925

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349073567

rs_2105890296

1 SubmittersRCV001814639

NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val)

SNV
Germline

Chr2:165999739

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA349049563

rs_2105486615

2 SubmittersRCV001939397 RCV004796692

NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly)

SNV
Germline

Chr2:166045248

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3

Criteria Provided
Conflicting Classifications

CA1943301

rs_777120925

2 SubmittersRCV001864733 RCV002503405

NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)

SNV
Germline

Chr2:166036353

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349059897

rs_1553540342

2 SubmittersRCV001985326 RCV003228035

NM_001165963.4(SCN1A):c.76G>T (p.Glu26Ter)

SNV
Germline

Chr2:166073546

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA60270532

rs_76921794

2 SubmittersRCV001958443 RCV005253949

NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)

SNV
Germline

Chr2:166051872

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349073228

rs_2105889878

3 SubmittersRCV001951947 RCV002479417 RCV005232717

NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)

SNV
Germline

Chr1:151658343

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341958796

rs_2102676931

1 SubmittersRCV001997033

NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser)

SNV
Germline

Chr2:166046972

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3

Criteria Provided
Conflicting Classifications

CA349071043

rs_2105862926

2 SubmittersRCV001990893 RCV004796697

NM_001330723.2(SNX27):c.1426C>T (p.Arg476Ter)

SNV
Germline

Chr1:151692947

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341972939

rs_1346732190

1 SubmittersRCV001877806

NM_001330723.2(SNX27):c.1431G>A (p.Trp477Ter)

SNV
Germline

Chr1:151692952

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341972964

rs_574654968

1 SubmittersRCV001975053

NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly)

SNV
Germline

Chr2:166058601

Likely pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349076917

rs_2105917940

1 SubmittersRCV002251785

NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)

SNV
Unknown

Chr2:165999743

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049570

rs_2105486716

1 SubmittersRCV002267698

NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)

SNV
Germline

Chr2:166037916

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061332

rs_796052988

1 SubmittersRCV002276250

NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)

SNV
Germline

Chr2:165994413

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349072378

rs_1553521087

1 SubmittersRCV002283736

NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)

SNV
Germline

Chr2:166051848

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349073058

rs_1553549679

1 SubmittersRCV002283766

NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)

SNV
Germline

Chr2:165991981

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349068257

rs_1553520199

1 SubmittersRCV002283806

NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)

SNV
Germline

Chr2:165998096

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049338

rs_2468394208

1 SubmittersRCV002284136

NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)

SNV
Germline

Chr2:165998134

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349049420

rs_2468394870

2 SubmittersRCV002284137 RCV003753228

NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)

SNV
Germline

Chr2:166037876

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061182

rs_1696624989

1 SubmittersRCV002284138

NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)

SNV
Germline

Chr2:166002578

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349050166

rs_2468435194

1 SubmittersRCV002284139

NM_001165963.4(SCN1A):c.1377+1G>A

SNV
Germline

Chr2:166046769

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349070173

rs_886043864

1 SubmittersRCV002284147

NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)

SNV
Germline

Chr2:165992098

Pathogenic/Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349068772

rs_2105431458

2 SubmittersRCV002289212 RCV003097773

NM_001165963.4(SCN1A):c.474-2A>G

SNV
Germline

Chr2:166054768

Pathogenic

Inborn genetic diseases
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349075752

rs_2468248065

2 SubmittersRCV002335526 RCV004577923

NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)

SNV
Germline

Chr2:165991711

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349065433

rs_1057517958

1 SubmittersRCV002463570

NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)

SNV
Germline

Chr2:166048908

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071610

rs_398123578

1 SubmittersRCV002466351

NM_001165963.4(SCN1A):c.4003-4T>G

SNV
Germline

Chr2:166002757

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA2580064432

rs_2468438327

1 SubmittersRCV002466354

NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)

SNV
Germline

Chr2:166002477

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049871

rs_1553524889

1 SubmittersRCV002468781

NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)

SNV
Germline

Chr2:166012151

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349054076

rs_1303080207

1 SubmittersRCV002471421

NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)

SNV
Germline

Chr2:165992391

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy

Criteria Provided
Conflicting Classifications

CA349070551

rs_2468341232

3 SubmittersRCV002569439 RCV002510640 RCV003493962

NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg)

SNV
Germline

Chr2:166002684

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349050613

rs_2468437301

2 SubmittersRCV002651541 RCV005208197

NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro)

SNV
Germline

Chr2:166009739

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349052944

rs_2468493029

2 SubmittersRCV002651542 RCV005254720

NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter)

SNV
Germline

Chr2:166073615

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349243507

rs_924198007

2 SubmittersRCV002651560 RCV004763552

NM_001165963.4(SCN1A):c.2589+1G>C

SNV
Germline

Chr2:166039422

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349062298

rs_1057517849

1 SubmittersRCV002510675

NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)

SNV
Germline

Chr1:151693013

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341973317

rs_1571881557

1 SubmittersRCV002862358

NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)

SNV
Germline

Chr2:166051736

Pathogenic

Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349072489

rs_2468220881

2 SubmittersRCV002880770 RCV003483899

NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)

SNV
Germline

Chr2:166038002

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349061526

rs_2468098623

1 SubmittersRCV002789969

NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)

SNV
Germline

Chr2:166045239

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349069707

rs_1553545740

1 SubmittersRCV003128170

NM_001165963.4(SCN1A):c.1171-1G>A

SNV
Germline

Chr2:166046977

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy 6B
Developmental and epileptic encephalopathy
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349071055

rs_2468182873

3 SubmittersRCV003159277 RCV005100950 RCV005241257

NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)

SNV
Germline

Chr2:165998102

Conflicting classifications of pathogenicity

Severe myoclonic epilepsy in infancy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA349049351

rs_794726809

3 SubmittersRCV003226889 RCV003235813 RCV005273645

NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)

SNV
Unknown

Chr2:165998135

Likely pathogenic

Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349049423

rs_2468394894

1 SubmittersRCV003234626

NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)

SNV
Germline

Chr2:165992368

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349070330

rs_121917995

1 SubmittersRCV003234956

NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)

SNV
Germline

Chr2:165992332

Pathogenic

Condition: not provided
Severe myoclonic epilepsy in infancy

Criteria Provided
Multiple Submitters
No Conflicts

CA349070084

rs_121918622

2 SubmittersRCV003312497 RCV004763643

NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)

SNV
Germline

Chr2:166046961

Pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349071025

rs_2468182612

2 SubmittersRCV003314358 RCV003753267

NM_001165963.4(SCN1A):c.965-2A>G

SNV
Unknown

Chr2:166048951

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071831

rs_2468200648

1 SubmittersRCV003459827

NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)

SNV
Germline

Chr2:166041302

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349064135

rs_1574202324

1 SubmittersRCV003324608

NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)

SNV
Germline

Chr2:165994229

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

CA349071613

rs_2468358829

1 SubmittersRCV003326175

NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)

SNV
Germline

Chr2:166043869

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy
SCN1A-related disorder
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3

Criteria Provided
Conflicting Classifications

CA349067476

rs_1271824691

3 SubmittersRCV003588910 RCV004536742 RCV005021958

NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)

SNV
Germline

Chr2:166002632

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA349050370

rs_2468436385

2 SubmittersRCV003455878 RCV003753295

NM_001165963.4(SCN1A):c.2415+1G>T

SNV
Unknown

Chr2:166041230

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349063647

rs_886041292

1 SubmittersRCV003485998

NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)

SNV
Germline

Chr2:166073449

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349242938

rs_2468365428

1 SubmittersRCV003494564

NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)

SNV
Germline

Chr1:151668558

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341966249

rs_2525037609

1 SubmittersRCV003508185

NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)

SNV
Germline

Chr1:151692995

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA341973191

rs_2525156811

1 SubmittersRCV003616254

NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)

SNV
Germline

Chr2:166073381

Pathogenic

Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Single Submitter

CA349242691

rs_2468364026

1 SubmittersRCV003883276

NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)

SNV
Germline

Chr2:166046862

Pathogenic

Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Generalized epilepsy with febrile seizures plus, type 2
Developmental and epileptic encephalopathy 6B

Criteria Provided
Single Submitter

CA349070767

rs_1455927233

1 SubmittersRCV003883365

NM_001165963.4(SCN1A):c.437C>A (p.Thr146Lys)

SNV
Germline

Chr2:166056447

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349075965

rs_2468258442

1 SubmittersRCV003989929

NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)

SNV
Germline

Chr2:166039580

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349062761

rs_2468115658

1 SubmittersRCV003989079

NM_001165963.4(SCN1A):c.3668T>G (p.Phe1223Cys)

SNV
Germline

Chr2:166013781

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349055866

rs_2468531169

1 SubmittersRCV003990578

NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)

SNV
Germline

Chr2:165992105

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349068804

rs_2468336343

1 SubmittersRCV003989364

NM_001165963.4(SCN1A):c.412A>G (p.Ile138Val)

SNV
Germline

Chr2:166056472

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349076064

rs_2468258726

1 SubmittersRCV003993583

NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)

SNV
Germline

Chr2:166047655

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

CA349071128

rs_2468188755

1 SubmittersRCV003991796

NM_001165963.4(SCN1A):c.560G>C (p.Arg187Pro)

SNV
Germline

Chr2:166054680

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

rs_777631884

1 SubmittersRCV004577932

NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg)

SNV
Germline

Chr2:166037853

Pathogenic

Severe myoclonic epilepsy in infancy

No Assertion Criteria Provided

rs_1696618804

1 SubmittersRCV004577933

NM_001165963.4(SCN1A):c.4279C>A (p.Gln1427Lys)

SNV
Germline

Chr2:166002477

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004596624

NM_001165963.4(SCN1A):c.384-2A>G

SNV
Germline

Chr2:166056502

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004596625

NM_001165963.4(SCN1A):c.2808C>G (p.Asp936Glu)

SNV
Germline

Chr2:166037914

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004596626

NM_001165963.4(SCN1A):c.383+2T>C

SNV
Germline

Chr2:166058568

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004771693

NM_001165963.4(SCN1A):c.4117T>A (p.Phe1373Ile)

SNV
Germline

Chr2:166002639

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV004776385

NM_001165963.4(SCN1A):c.2360T>A (p.Met787Lys)

SNV
Germline

Chr2:166041286

Likely pathogenic

Generalized epilepsy with febrile seizures plus, type 2
Severe myoclonic epilepsy in infancy
Migraine, familial hemiplegic, 3
Developmental and epileptic encephalopathy 6B

Criteria Provided
Single Submitter

1 SubmittersRCV004795495

NM_001165963.4(SCN1A):c.5080T>C (p.Tyr1694His)

SNV
Unknown

Chr2:165992195

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005001952

NM_001165963.4(SCN1A):c.5741A>C (p.Gln1914Pro)

SNV
Germline

Chr2:165991534

Pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005002100

NM_001330723.2(SNX27):c.1240-2A>G

SNV
Germline

Chr1:151692433

Likely pathogenic

Severe myoclonic epilepsy in infancy

Criteria Provided
Single Submitter

1 SubmittersRCV005140163

NM_001165963.4(SCN1A):c.1037C>A (p.Pro346Gln)

SNV
Germline

Chr2:166047760

Likely pathogenic

Severe myoclonic epilepsy in infancy
Developmental and epileptic encephalopathy 6B
Generalized epilepsy with febrile seizures plus, type 2
Febrile seizures, familial, 3a

Criteria Provided
Single Submitter

1 SubmittersRCV005244159

NM_001165963.4(SCN1A):c.4576C>A (p.Pro1526Thr)

SNV
Germline

Chr2:165996018

Likely pathogenic

Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005244162

NM_001165963.4(SCN1A):c.4003-2A>G

SNV
Germline

Chr2:166002755