| - GRCh37:
- Chr19:15291038
- GRCh38:
- Chr19:15180227
| NOTCH3 | G1058C | not provided | Pathogenic
(Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15272033-15272034
- GRCh38:
- Chr19:15161222-15161223
| NOTCH3 | L2137fs | Lateral meningocele syndrome | Pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15295710
- GRCh38:
- Chr19:15184899
| NOTCH3 | | Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance
(Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15297973
- GRCh38:
- Chr19:15187162
| NOTCH3 | G595S | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
Myofibromatosis, infantile, 2 | Uncertain significance
(Apr 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15295701-15295702
- GRCh38:
- Chr19:15184890-15184891
| NOTCH3 | | not provided, Myofibromatosis, infantile, 2, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
Lateral meningocele syndrome | Likely benign
(Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15308389
- GRCh38:
- Chr19:15197578
| NOTCH3 | A40V | Myofibromatosis, infantile, 2, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
not provided | Uncertain significance
(Nov 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15296181
- GRCh38:
- Chr19:15185370
| NOTCH3 | R728H | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2, Lateral meningocele syndrome,
not provided | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15285053
- GRCh38:
- Chr19:15174242
| NOTCH3 | P1521R | Lateral meningocele syndrome | Uncertain significance
(Sep 13, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr19:15288576
- GRCh38:
- Chr19:15177765
| NOTCH3 | P1388L | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
Myofibromatosis, infantile, 2 | Uncertain significance
(Dec 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15291806
- GRCh38:
- Chr19:15180995
| NOTCH3 | T987S | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2,
Lateral meningocele syndrome | Uncertain significance
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271758
- GRCh38:
- Chr19:15160947
| NOTCH3 | H2227Q | Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2,
not provided | Uncertain significance
(Jul 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15281282
- GRCh38:
- Chr19:15170471
| NOTCH3 | | Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2,
not specified | Likely benign
(Sep 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15303091
- GRCh38:
- Chr19:15192280
| NOTCH3 | P120L | Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2,
not provided | Conflicting interpretations of pathogenicity
(Dec 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15273231
- GRCh38:
- Chr19:15162420
| NOTCH3 | | not provided, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15273221
- GRCh38:
- Chr19:15162410
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, not provided
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15296391
- GRCh38:
- Chr19:15185580
| NOTCH3 | P684L | 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 | Uncertain significance
(Nov 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15281342
- GRCh38:
- Chr19:15170531
| NOTCH3 | | 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 | Uncertain significance
(Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271167
- GRCh38:
- Chr19:15160356
| NOTCH3 | | 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 | Uncertain significance
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15273248
- GRCh38:
- Chr19:15162437
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, not provided
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15276143
- GRCh38:
- Chr19:15165332
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, not provided
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15292366
- GRCh38:
- Chr19:15181555
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, not provided
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15276923
- GRCh38:
- Chr19:15166112
| NOTCH3 | | Lateral meningocele syndrome, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15281386
- GRCh38:
- Chr19:15170575
| NOTCH3 | | Lateral meningocele syndrome, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15290125
- GRCh38:
- Chr19:15179314
| NOTCH3, MIR6795 | | Lateral meningocele syndrome, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15289613
- GRCh38:
- Chr19:15178802
| NOTCH3 | | Lateral meningocele syndrome, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15299833
- GRCh38:
- Chr19:15189022
| NOTCH3 | R449C | Myofibromatosis, infantile, 2, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
not provided | Conflicting interpretations of pathogenicity
(Aug 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15290983
- GRCh38:
- Chr19:15180172
| NOTCH3 | R1076H | Myofibromatosis, infantile, 2, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
not provided | Uncertain significance
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271820
- GRCh38:
- Chr19:15161009
| NOTCH3 | R2207W | Myofibromatosis, infantile, 2, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Inborn genetic diseases, not provided
| Conflicting interpretations of pathogenicity
(Mar 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15271918
- GRCh38:
- Chr19:15161107
| NOTCH3 | R2174Q | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not provided | Uncertain significance
(Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15285055
- GRCh38:
- Chr19:15174244
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not provided | Likely benign
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15289862
- GRCh38:
- Chr19:15179051
| NOTCH3 | R1231H | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not provided | Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15290315
- GRCh38:
- Chr19:15179504
| NOTCH3 | | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
Myofibromatosis, infantile, 2 | Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15285202
- GRCh38:
- Chr19:15174391
| NOTCH3 | | not provided, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
Myofibromatosis, infantile, 2 | Likely benign
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15308373
- GRCh38:
- Chr19:15197562
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not provided | Benign/Likely benign
(Jun 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15281591
- GRCh38:
- Chr19:15170780
| NOTCH3 | | Myofibromatosis, infantile, 2, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
not provided | Likely benign
(Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271812-15271813
- GRCh38:
- Chr19:15161001-15161002
| NOTCH3 | P2210fs | Lateral meningocele syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:15311682-15311684
- GRCh38:
- Chr19:15200871-15200873
| NOTCH3 | R13del | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2, Lateral meningocele syndrome
| Uncertain significance
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15308363
- GRCh38:
- Chr19:15197552
| NOTCH3 | C49G | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not provided | Pathogenic
(Sep 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15298126
- GRCh38:
- Chr19:15187315
| NOTCH3 | R544C | 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, Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, not provided
| Pathogenic/Likely pathogenic
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15302831
- GRCh38:
- Chr19:15192020
| NOTCH3 | R207C | 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, not provided | Pathogenic/Likely pathogenic
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15303013
- GRCh38:
- Chr19:15192202
| NOTCH3 | C146Y | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2, Lateral meningocele syndrome,
not provided | Pathogenic
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15303029
- GRCh38:
- Chr19:15192218
| NOTCH3 | R141C | 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, not provided | Pathogenic
(Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15290914
- GRCh38:
- Chr19:15180103
| NOTCH3 | C1099Y | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not provided | Pathogenic/Likely pathogenic
(Aug 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15291572
- GRCh38:
- Chr19:15180761
| NOTCH3 | Y1021C | not provided | Pathogenic/Likely pathogenic
(Aug 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15298084
- GRCh38:
- Chr19:15187273
| NOTCH3 | R558C | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2,
Lateral meningocele syndrome, not provided, See cases
| Pathogenic/Likely pathogenic
(Sep 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15297937
- GRCh38:
- Chr19:15187126
| NOTCH3 | R607C | 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 | Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15302941
- GRCh38:
- Chr19:15192130
| NOTCH3 | H170R | 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, not specified, not provided
| Benign/Likely benign
(Apr 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15302790
- GRCh38:
- Chr19:15191979
| NOTCH3 | | 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, not provided | Benign/Likely benign
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15302446
- GRCh38:
- Chr19:15191635
| NOTCH3 | | 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 | Benign/Likely benign
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271771
- GRCh38:
- Chr19:15160960
| NOTCH3 | A2223V | not specified, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15302844
- GRCh38:
- Chr19:15192033
| NOTCH3 | | not specified, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15273335
- GRCh38:
- Chr19:15162524
| NOTCH3 | V1952M | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
Myofibromatosis, infantile, 2, not specified, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15273381
- GRCh38:
- Chr19:15162570
| NOTCH3 | | not specified, not provided, Lateral meningocele syndrome,
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15276919
- GRCh38:
- Chr19:15166108
| NOTCH3 | | not specified, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
Lateral meningocele syndrome | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15278057
- GRCh38:
- Chr19:15167246
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, not specified,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15285052
- GRCh38:
- Chr19:15174241
| NOTCH3 | | Lateral meningocele syndrome, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
not specified | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15285063
- GRCh38:
- Chr19:15174252
| NOTCH3 | L1518M | 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, not specified, not provided
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15303225
- GRCh38:
- Chr19:15192414
| NOTCH3 | | not specified, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15292437
- GRCh38:
- Chr19:15181626
| NOTCH3 | | not specified, Lateral meningocele syndrome, not provided,
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15295134
- GRCh38:
- Chr19:15184323
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, not specified,
not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15295265
- GRCh38:
- Chr19:15184454
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, not specified, not provided,
Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2
| Benign/Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15295827
- GRCh38:
- Chr19:15185016
| NOTCH3 | R767H | not specified, not provided, Lateral meningocele syndrome,
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2 | Benign/Likely benign
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15296162
- GRCh38:
- Chr19:15185351
| NOTCH3 | | not specified, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome,
Myofibromatosis, infantile, 2, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15296403
- GRCh38:
- Chr19:15185592
| NOTCH3 | R680H | not specified, 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, not provided
| Benign/Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15297974
- GRCh38:
- Chr19:15187163
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, not specified
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15299048
- GRCh38:
- Chr19:15188237
| NOTCH3 | S497L | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not specified, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15299051
- GRCh38:
- Chr19:15188240
| NOTCH3 | P496L | 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, not provided, not specified
| Benign/Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15300069
- GRCh38:
- Chr19:15189258
| NOTCH3 | | not provided, Lateral meningocele syndrome, not specified,
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271862-15271941
- GRCh38:
- Chr19:15161051-15161130
| NOTCH3 | A2167fs | Lateral meningocele syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr19:15271776
- GRCh38:
- Chr19:15160965
| NOTCH3 | Y2221* | Lateral meningocele syndrome, not provided | Pathogenic
(Jun 16, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271707
- GRCh38:
- Chr19:15160896
| NOTCH3 | Y2244* | Lateral meningocele syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271746-15271747
- GRCh38:
- Chr19:15160935-15160936
| NOTCH3 | A2233fs | Lateral meningocele syndrome, not provided | Pathogenic
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271953-15271978
- GRCh38:
- Chr19:15161142-15161167
| NOTCH3 | G2154fs | Lateral meningocele syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:15272192
- GRCh38:
- Chr19:15161381
| NOTCH3 | K2083* | Lateral meningocele syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:15302999
- GRCh38:
- Chr19:15192188
| NOTCH3 | Q151E | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2,
not provided | Uncertain significance
(Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15291576
- GRCh38:
- Chr19:15180765
| NOTCH3 | A1020P | Myofibromatosis, infantile, 2, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
not provided, not specified, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15302945
- GRCh38:
- Chr19:15192134
| NOTCH3 | R169C | Myofibromatosis, infantile, 2, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1,
not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Pathogenic
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |