Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	SNV Germline	Chr19:15192134	Pathogenic	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Condition: not provided Migraine without aura Stroke disorder Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2 NOTCH3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340884	rs_28933696	16 SubmittersRCV000009800 RCV000518159 RCV001003548 RCV002482849 RCV004532317
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	SNV Germline	Chr19:15192242	Pathogenic/Likely pathogenic	Recurrent subcortical infarcts Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 NOTCH3-related disorder Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome	Criteria Provided Multiple Submitters No Conflicts	CA340890	rs_137852642	19 SubmittersRCV000415016 RCV000516340 RCV000009806 RCV004532318 RCV003996082
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)	SNV Germline	Chr19:15161381	Pathogenic	Lateral meningocele syndrome	Criteria Provided Single Submitter	CA204353	rs_796065045	3 SubmittersRCV000190331
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)	SNV Germline	Chr19:15192182	Pathogenic	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Transient ischemic attack Ischemic stroke Condition: not provided Lateral meningocele syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Myofibromatosis, infantile, 2	Criteria Provided Multiple Submitters No Conflicts	CA346917	rs_797045014	12 SubmittersRCV000190514 RCV000626690 RCV001554929 RCV004796085
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)	SNV Germline	Chr19:15160896	Pathogenic	Lateral meningocele syndrome	Criteria Provided Single Submitter	CA358565	rs_869312910	3 SubmittersRCV000210475
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)	SNV Germline	Chr19:15160965	Pathogenic	Lateral meningocele syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA358562	rs_869312911	4 SubmittersRCV000210457 RCV000426246
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)	SNV Germline	Chr19:15187126	Pathogenic/Likely pathogenic	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Myofibromatosis, infantile, 2 Lateral meningocele syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9263542	rs_777751303	9 SubmittersRCV000415985 RCV000763036 RCV002221233
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)	SNV Germline	Chr19:15180103	Pathogenic/Likely pathogenic	Condition: not provided Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Sneddon syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 NOTCH3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404513034	rs_1555727841	5 SubmittersRCV000517796 RCV000763035 RCV002508219 RCV004737590
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	SNV Germline	Chr19:15180761	Pathogenic/Likely pathogenic	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2 NOTCH3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404514283	rs_1167405466	9 SubmittersRCV000518485 RCV001800727 RCV004737589
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)	SNV Germline	Chr19:15187171	Conflicting classifications of pathogenicity	Condition: not provided See cases NOTCH3-related disorder Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2	Criteria Provided Conflicting Classifications	CA9263550	rs_764148985	7 SubmittersRCV000516565 RCV002287419 RCV004537852 RCV005398736
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	SNV Germline	Chr19:15187273	Pathogenic/Likely pathogenic	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Myofibromatosis, infantile, 2 Lateral meningocele syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 See cases NOTCH3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA9263584	rs_75068032	13 SubmittersRCV000517370 RCV000763037 RCV001526580 RCV002252148 RCV004537851
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	SNV Germline	Chr19:15192020	Pathogenic/Likely pathogenic	Condition: not provided Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 NOTCH3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA9263848	rs_775267348	12 SubmittersRCV000517748 RCV000763039 RCV001374652 RCV003330087 RCV004737591
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)	SNV Germline	Chr19:15192202	Pathogenic	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404534075	rs_1236699193	5 SubmittersRCV000518724 RCV000763040 RCV000999640
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	SNV Germline	Chr19:15192218	Pathogenic	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 NOTCH3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA404534145	rs_1174625611	13 SubmittersRCV000518361 RCV001089753 RCV002497000 RCV004537854
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)	SNV Germline	Chr19:15197537	Pathogenic/Likely pathogenic	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2	Criteria Provided Multiple Submitters No Conflicts	CA404483379	rs_1555730189	7 SubmittersRCV000516423 RCV001253276 RCV002508218 RCV004796220
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	SNV Germline	Chr19:15187315	Pathogenic/Likely pathogenic	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Lateral meningocele syndrome	Criteria Provided Multiple Submitters No Conflicts	CA9263595	rs_201118034	15 SubmittersRCV000657880 RCV000763038 RCV000778145 RCV001805784 RCV004783834
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)	SNV Germline	Chr19:15197552	Pathogenic/Likely pathogenic	Condition: not provided Lateral meningocele syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Multiple Submitters No Conflicts	CA404483409	rs_1555730197	6 SubmittersRCV000710993 RCV002485786 RCV005407913
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)	SNV Germline	Chr19:15181023	Conflicting classifications of pathogenicity	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 not specified Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2	Criteria Provided Conflicting Classifications	CA9263235	rs_141956294	7 SubmittersRCV000871542 RCV000990177 RCV001288890 RCV005029525
NM_000435.3(NOTCH3):c.224G>A (p.Arg75Gln)	SNV Germline	Chr19:15192493	Conflicting classifications of pathogenicity	Condition: not provided Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy NOTCH3-related disorder Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Conflicting Classifications	CA9263949	rs_145069047	4 SubmittersRCV000945357 RCV001374641 RCV004738096 RCV005029540
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)	SNV Germline	Chr19:15161009	Conflicting classifications of pathogenicity	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 NOTCH3-related disorder Inborn genetic diseases Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Conflicting Classifications	CA9262340	rs_753170185	6 SubmittersRCV000996808 RCV001123437 RCV004536033 RCV003243392 RCV002481780
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)	SNV Germline	Chr19:15180172	Conflicting classifications of pathogenicity	Condition: not provided Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Conflicting Classifications	CA9263153	rs_771803651	3 SubmittersRCV000996810 RCV002489498
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)	SNV Germline	Chr19:15189022	Conflicting classifications of pathogenicity	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2	Criteria Provided Conflicting Classifications	CA404527686	rs_762734007	6 SubmittersRCV000999636 RCV001811557 RCV002489505
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)	SNV Germline	Chr19:15185344	Conflicting classifications of pathogenicity	Condition: not provided not specified Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9263409	rs_754815179	5 SubmittersRCV001811618 RCV004997569 RCV005029564 RCV002551698
NM_000435.3(NOTCH3):c.316T>G (p.Cys106Gly)	SNV Germline	Chr19:15192401	Pathogenic/Likely pathogenic	not specified Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2	Criteria Provided Multiple Submitters No Conflicts	CA404534800	rs_1555729589	2 SubmittersRCV001002545 RCV005029563
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)	SNV Germline	Chr19:15186911	Pathogenic/Likely pathogenic	Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome NOTCH3-related disorder Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Multiple Submitters No Conflicts	CA9263506	rs_760768552	7 SubmittersRCV001288880 RCV005411258 RCV004738158 RCV005623083
NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val)	SNV Germline	Chr19:15161419	Conflicting classifications of pathogenicity	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Condition: not provided Inborn genetic diseases Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2	Criteria Provided Conflicting Classifications	CA9262402	rs_763603215	4 SubmittersRCV001125540 RCV003558691 RCV004960476 RCV005394753
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)	SNV Germline	Chr19:15185580	Conflicting classifications of pathogenicity	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA9263458	rs_770737365	3 SubmittersRCV001125797 RCV002482248 RCV003727882
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)	SNV Germline	Chr19:15192478	Conflicting classifications of pathogenicity	Condition: not provided Lateral meningocele syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Myofibromatosis, infantile, 2	Criteria Provided Conflicting Classifications	CA404535099	rs_1599395616	4 SubmittersRCV001812344 RCV004796409
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)	SNV Germline	Chr19:15192280	Conflicting classifications of pathogenicity	Condition: not provided not specified Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Myofibromatosis, infantile, 2 Lateral meningocele syndrome	Criteria Provided Conflicting Classifications	CA9263901	rs_778715118	4 SubmittersRCV001663857 RCV004998952 RCV002488456
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)	SNV Germline	Chr19:15180995	Conflicting classifications of pathogenicity	Cerebral cavernous malformation Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9263227	rs_752995216	3 SubmittersRCV001728074 RCV002496054 RCV002032702
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)	SNV Germline	Chr19:15185370	Conflicting classifications of pathogenicity	Condition: not provided Lateral meningocele syndrome Myofibromatosis, infantile, 2 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Conflicting Classifications	CA9263419	rs_144935367	3 SubmittersRCV001902706 RCV002482661
NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)	SNV Germline	Chr19:15161008	Conflicting classifications of pathogenicity	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Myofibromatosis, infantile, 2	Criteria Provided Conflicting Classifications	CA9262339	rs_765739997	2 SubmittersRCV002470179 RCV005397438
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)	SNV Unknown	Chr19:15180227	Pathogenic	Condition: not provided Lateral meningocele syndrome Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Criteria Provided Single Submitter	CA404513887	rs_2512644040	2 SubmittersRCV002475311 RCV002508365
NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)	SNV Germline	Chr19:15192022	Pathogenic/Likely pathogenic	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA404533296	rs_2046931673	2 SubmittersRCV004011415 RCV003560095

NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)

SNV
Germline

Chr19:15192134

Pathogenic

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Condition: not provided
Migraine without aura
Stroke disorder
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
NOTCH3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340884

rs_28933696

16 SubmittersRCV000009800 RCV000518159 RCV001003548 RCV002482849 RCV004532317

NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)

SNV
Germline

Chr19:15192242

Pathogenic/Likely pathogenic

Recurrent subcortical infarcts
Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
NOTCH3-related disorder
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA340890

rs_137852642

19 SubmittersRCV000415016 RCV000516340 RCV000009806 RCV004532318 RCV003996082

NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)

SNV
Germline

Chr19:15161381

Pathogenic

Lateral meningocele syndrome

Criteria Provided
Single Submitter

CA204353

rs_796065045

3 SubmittersRCV000190331

NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)

SNV
Germline

Chr19:15192182

Pathogenic

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Transient ischemic attack
Ischemic stroke
Condition: not provided
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346917

rs_797045014

12 SubmittersRCV000190514 RCV000626690 RCV001554929 RCV004796085

NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)

SNV
Germline

Chr19:15160896

Pathogenic

Lateral meningocele syndrome

Criteria Provided
Single Submitter

CA358565

rs_869312910

3 SubmittersRCV000210475

NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)

SNV
Germline

Chr19:15160965

Pathogenic

Lateral meningocele syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA358562

rs_869312911

4 SubmittersRCV000210457 RCV000426246

NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)

SNV
Germline

Chr19:15187126

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9263542

rs_777751303

9 SubmittersRCV000415985 RCV000763036 RCV002221233

NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)

SNV
Germline

Chr19:15180103

Pathogenic/Likely pathogenic

Condition: not provided
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Sneddon syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
NOTCH3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404513034

rs_1555727841

5 SubmittersRCV000517796 RCV000763035 RCV002508219 RCV004737590

NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)

SNV
Germline

Chr19:15180761

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
NOTCH3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404514283

rs_1167405466

9 SubmittersRCV000518485 RCV001800727 RCV004737589

NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)

SNV
Germline

Chr19:15187171

Conflicting classifications of pathogenicity

Condition: not provided
See cases
NOTCH3-related disorder
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2

Criteria Provided
Conflicting Classifications

CA9263550

rs_764148985

7 SubmittersRCV000516565 RCV002287419 RCV004537852 RCV005398736

NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)

SNV
Germline

Chr19:15187273

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
See cases
NOTCH3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA9263584

rs_75068032

13 SubmittersRCV000517370 RCV000763037 RCV001526580 RCV002252148 RCV004537851

NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)

SNV
Germline

Chr19:15192020

Pathogenic/Likely pathogenic

Condition: not provided
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
NOTCH3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA9263848

rs_775267348

12 SubmittersRCV000517748 RCV000763039 RCV001374652 RCV003330087 RCV004737591

NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)

SNV
Germline

Chr19:15192202

Pathogenic

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404534075

rs_1236699193

5 SubmittersRCV000518724 RCV000763040 RCV000999640

NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)

SNV
Germline

Chr19:15192218

Pathogenic

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
NOTCH3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA404534145

rs_1174625611

13 SubmittersRCV000518361 RCV001089753 RCV002497000 RCV004537854

NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)

SNV
Germline

Chr19:15197537

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404483379

rs_1555730189

7 SubmittersRCV000516423 RCV001253276 RCV002508218 RCV004796220

NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)

SNV
Germline

Chr19:15187315

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Lateral meningocele syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA9263595

rs_201118034

15 SubmittersRCV000657880 RCV000763038 RCV000778145 RCV001805784 RCV004783834

NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)

SNV
Germline

Chr19:15197552

Pathogenic/Likely pathogenic

Condition: not provided
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA404483409

rs_1555730197

6 SubmittersRCV000710993 RCV002485786 RCV005407913

NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)

SNV
Germline

Chr19:15181023

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
not specified
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2

Criteria Provided
Conflicting Classifications

CA9263235

rs_141956294

7 SubmittersRCV000871542 RCV000990177 RCV001288890 RCV005029525

NM_000435.3(NOTCH3):c.224G>A (p.Arg75Gln)

SNV
Germline

Chr19:15192493

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
NOTCH3-related disorder
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Conflicting Classifications

CA9263949

rs_145069047

4 SubmittersRCV000945357 RCV001374641 RCV004738096 RCV005029540

NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)

SNV
Germline

Chr19:15161009

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
NOTCH3-related disorder
Inborn genetic diseases
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Conflicting Classifications

CA9262340

rs_753170185

6 SubmittersRCV000996808 RCV001123437 RCV004536033 RCV003243392 RCV002481780

NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)

SNV
Germline

Chr19:15180172

Conflicting classifications of pathogenicity

Condition: not provided
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Conflicting Classifications

CA9263153

rs_771803651

3 SubmittersRCV000996810 RCV002489498

NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)

SNV
Germline

Chr19:15189022

Conflicting classifications of pathogenicity

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2

Criteria Provided
Conflicting Classifications

CA404527686

rs_762734007

6 SubmittersRCV000999636 RCV001811557 RCV002489505

NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)

SNV
Germline

Chr19:15185344

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9263409

rs_754815179

5 SubmittersRCV001811618 RCV004997569 RCV005029564 RCV002551698

NM_000435.3(NOTCH3):c.316T>G (p.Cys106Gly)

SNV
Germline

Chr19:15192401

Pathogenic/Likely pathogenic

not specified
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA404534800

rs_1555729589

2 SubmittersRCV001002545 RCV005029563

NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)

SNV
Germline

Chr19:15186911

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
NOTCH3-related disorder
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA9263506

rs_760768552

7 SubmittersRCV001288880 RCV005411258 RCV004738158 RCV005623083

NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val)

SNV
Germline

Chr19:15161419

Conflicting classifications of pathogenicity

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Condition: not provided
Inborn genetic diseases
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2

Criteria Provided
Conflicting Classifications

CA9262402

rs_763603215

4 SubmittersRCV001125540 RCV003558691 RCV004960476 RCV005394753

NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)

SNV
Germline

Chr19:15185580

Conflicting classifications of pathogenicity

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9263458

rs_770737365

3 SubmittersRCV001125797 RCV002482248 RCV003727882

NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)

SNV
Germline

Chr19:15192478

Conflicting classifications of pathogenicity

Condition: not provided
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2

Criteria Provided
Conflicting Classifications

CA404535099

rs_1599395616

4 SubmittersRCV001812344 RCV004796409

NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)

SNV
Germline

Chr19:15192280

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2
Lateral meningocele syndrome

Criteria Provided
Conflicting Classifications

CA9263901

rs_778715118

4 SubmittersRCV001663857 RCV004998952 RCV002488456

NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)

SNV
Germline

Chr19:15180995

Conflicting classifications of pathogenicity

Cerebral cavernous malformation
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9263227

rs_752995216

3 SubmittersRCV001728074 RCV002496054 RCV002032702

NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)

SNV
Germline

Chr19:15185370

Conflicting classifications of pathogenicity

Condition: not provided
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Conflicting Classifications

CA9263419

rs_144935367

3 SubmittersRCV001902706 RCV002482661

NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)

SNV
Germline

Chr19:15161008

Conflicting classifications of pathogenicity

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Myofibromatosis, infantile, 2

Criteria Provided
Conflicting Classifications

CA9262339

rs_765739997

2 SubmittersRCV002470179 RCV005397438

NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)

SNV
Unknown

Chr19:15180227

Pathogenic

Condition: not provided
Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Criteria Provided
Single Submitter

CA404513887

rs_2512644040

2 SubmittersRCV002475311 RCV002508365

NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)

SNV
Germline

Chr19:15192022

Pathogenic/Likely pathogenic

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA404533296

rs_2046931673

2 SubmittersRCV004011415 RCV003560095