| - GRCh37:
- Chr7:140624438
- GRCh38:
- Chr7:140924638
| BRAF | D22E | Noonan syndrome 7 | Uncertain significance
(Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140454014
- GRCh38:
- Chr7:140754214
| BRAF | I484V, I520V, I535V, I538V, I550V, I572V, I575V, I612V | Noonan syndrome 7 | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140453077
- GRCh38:
- Chr7:140753277
| BRAF | M532V, M568V, M583V, M586V, M598V, M620V, M623V, M660V | Noonan syndrome 7 | Uncertain significance
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140481357-140481359
- GRCh38:
- Chr7:140781557-140781559
| BRAF | | RASopathy, not specified, Cardiofaciocutaneous syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer
| Benign/Likely benign
(Nov 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140481470
- GRCh38:
- Chr7:140781670
| BRAF | | Cardiovascular phenotype, RASopathy, Cardiofaciocutaneous syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, Colorectal cancer
| Likely benign
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140477893
- GRCh38:
- Chr7:140778093
| BRAF | | RASopathy, Cardiofaciocutaneous syndrome 1, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1 | Likely benign
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140534615
- GRCh38:
- Chr7:140834815
| BRAF | | Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3, Noonan syndrome 7,
Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1,
Colorectal cancer, RASopathy | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140449072
- GRCh38:
- Chr7:140749272
| BRAF | | RASopathy, Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer, Colorectal cancer,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1 | Likely benign
(Dec 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140434589-140434597
- GRCh38:
- Chr7:140734789-140734797
| BRAF | | RASopathy, Cardiofaciocutaneous syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1,
Noonan syndrome 1, Colorectal cancer, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer | Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140624380
- GRCh38:
- Chr7:140924580
| BRAF | A42S | RASopathy, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1 | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140624478
- GRCh38:
- Chr7:140924678
| BRAF | G9A | Cardiovascular phenotype, LEOPARD syndrome 3, Noonan syndrome 7,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1,
Lung cancer, Colorectal cancer, RASopathy
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140434558
- GRCh38:
- Chr7:140734758
| BRAF | I662V, I677V, I714V, I754V, I626V, I680V, I717V, I692V | RASopathy, Cardiofaciocutaneous syndrome 1, Lung cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer | Uncertain significance
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140434579-140434580
- GRCh38:
- Chr7:140734779-140734780
| BRAF | | Noonan syndrome and Noonan-related syndrome, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Cardiofaciocutaneous syndrome 1, Colorectal cancer,
Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1, RASopathy
| Benign/Likely benign
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140501249
- GRCh38:
- Chr7:140801449
| BRAF | E187K, E223K, E241K, E275K, E278K | Noonan syndrome 7, RASopathy | Pathogenic/Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140494187
- GRCh38:
- Chr7:140794387
| BRAF, LOC126860202 | R266Q, R302Q, R320Q, R354Q, R357Q | RASopathy, Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1,
LEOPARD syndrome 3, Noonan syndrome 7, Noonan syndrome 1,
Cardiofaciocutaneous syndrome 1, Colorectal cancer, not provided
| Uncertain significance
(Oct 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140449182
- GRCh38:
- Chr7:140749382
| BRAF | Y545H, Y581H, Y596H, Y599H, Y611H, Y633H, Y636H, Y673H | not provided, RASopathy, Melanoma, cutaneous malignant, susceptibility to, 1,
LEOPARD syndrome 3, Lung cancer, Noonan syndrome 7,
Colorectal cancer, Cardiofaciocutaneous syndrome 1 | Uncertain significance
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140534653
- GRCh38:
- Chr7:140834853
| BRAF | S35N, S53N, S87N | LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
Colorectal cancer, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, not provided | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140439757
- GRCh38:
- Chr7:140739957
| BRAF | | RASopathy, not provided, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer, Colorectal cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1
| Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140453087
- GRCh38:
- Chr7:140753287
| BRAF | | Cardiovascular phenotype, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, Colorectal cancer, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer, RASopathy
| Likely benign
(Oct 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140454009
- GRCh38:
- Chr7:140754209
| BRAF | | RASopathy, Melanoma, cutaneous malignant, susceptibility to, 1, Colorectal cancer,
Cardiofaciocutaneous syndrome 1, Lung cancer, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7 | Likely benign
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140500227
- GRCh38:
- Chr7:140800427
| BRAF | | Cardiovascular phenotype, RASopathy, Noonan syndrome 1,
Lung cancer, LEOPARD syndrome 3, Noonan syndrome 7,
Colorectal cancer, Cardiofaciocutaneous syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1,
not provided | Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140624392
- GRCh38:
- Chr7:140924592
| BRAF | A38P | Colorectal cancer, Noonan syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1,
Cardiofaciocutaneous syndrome 1, RASopathy, Cardiovascular phenotype
| Uncertain significance
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140454029
- GRCh38:
- Chr7:140754229
| BRAF | L545V, L567V, L479V, L515V, L530V, L533V, L570V, L607V | not provided, RASopathy, Noonan syndrome 7
| Conflicting interpretations of pathogenicity
(Apr 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140624559
- GRCh38:
- Chr7:140924759
| BRAF, LOC129999507 | | Noonan syndrome 7, LEOPARD syndrome 3 | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140624515
- GRCh38:
- Chr7:140924715
| BRAF | | LEOPARD syndrome 3, Noonan syndrome 7 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140494192
- GRCh38:
- Chr7:140794392
| BRAF, LOC126860202 | D318E, D352E, D355E, D264E, D300E | Noonan syndrome 7, LEOPARD syndrome 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140494182
- GRCh38:
- Chr7:140794382
| BRAF, LOC126860202 | Q268E, Q322E, Q304E, Q356E, Q359E | Noonan syndrome 7, LEOPARD syndrome 3 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140482955
- GRCh38:
- Chr7:140783155
| BRAF | S342P, S397P, S434P, S360P, S394P, S306P | Melanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3, Noonan syndrome 7,
Noonan syndrome 1, Colorectal cancer, Cardiofaciocutaneous syndrome 1,
Lung cancer, RASopathy, LEOPARD syndrome 3,
Noonan syndrome 7 | Uncertain significance
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140434273
- GRCh38:
- Chr7:140734473
| BRAF | | LEOPARD syndrome 3, Noonan syndrome 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140434254
- GRCh38:
- Chr7:140734454
| BRAF | | Noonan syndrome 7, LEOPARD syndrome 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140434194
- GRCh38:
- Chr7:140734394
| BRAF | | Noonan syndrome 7, LEOPARD syndrome 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140476837
- GRCh38:
- Chr7:140777037
| BRAF | | Noonan syndrome 7, RASopathy, LEOPARD syndrome 3
| Conflicting interpretations of pathogenicity
(Feb 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140434181
- GRCh38:
- Chr7:140734381
| BRAF | | Noonan syndrome 7, LEOPARD syndrome 3 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140508737
- GRCh38:
- Chr7:140808937
| BRAF | R136T, R188T, R100T, R154T | Noonan syndrome 7, LEOPARD syndrome 3 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140449136
- GRCh38:
- Chr7:140749336
| BRAF | E611G, E614G, E648G, E596G, E626G, E651G, E688G, E560G | Noonan syndrome 7, LEOPARD syndrome 3 | Uncertain significance
(May 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140482929
- GRCh38:
- Chr7:140783129
| BRAF | | not provided, Cardiovascular phenotype, Cardiofaciocutaneous syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, Colorectal cancer, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Lung cancer,
RASopathy | Likely benign
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140482930
- GRCh38:
- Chr7:140783130
| BRAF | P402H, P314H, P350H, P368H, P405H, P442H | RASopathy, Noonan syndrome and Noonan-related syndrome, Hypertrophic cardiomyopathy,
not provided, Lung cancer, Melanoma, cutaneous malignant, susceptibility to, 1,
Cardiofaciocutaneous syndrome 1, Noonan syndrome 1, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7 ...see more | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140476814
- GRCh38:
- Chr7:140777014
| BRAF | W531S, W571S | Noonan syndrome 7 | Pathogenic
(Jul 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140481421
- GRCh38:
- Chr7:140781621
| BRAF | I463V, I375V, I411V, I426V, I429V, I441V, I466V, I503V | Noonan syndrome 7 | Likely pathogenic
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140476699
- GRCh38:
- Chr7:140776899
| BRAF | | RASopathy, Colorectal cancer, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7, Cardiofaciocutaneous syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, Lung cancer, not provided
| Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140449139
- GRCh38:
- Chr7:140749339
| BRAF | Y647C, Y559C, Y595C, Y610C, Y613C, Y625C, Y650C, Y687C | not provided, Lung carcinoma, Noonan syndrome 7,
Cardiofaciocutaneous syndrome 1, Noonan syndrome 1, LEOPARD syndrome 3
| Uncertain significance
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140482945
- GRCh38:
- Chr7:140783145
| BRAF | G397D, G309D, G345D, G363D, G400D, G437D | RASopathy, Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7 | Uncertain significance
(Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140534390
- GRCh38:
- Chr7:140834590
| BRAF | | not specified, RASopathy, LEOPARD syndrome 3,
Noonan syndrome 7, Cardiofaciocutaneous syndrome 1, Lung cancer,
Noonan syndrome 1, Melanoma, cutaneous malignant, susceptibility to, 1, Colorectal cancer
| Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140494225
- GRCh38:
- Chr7:140794425
| LOC126860202, BRAF | | Noonan syndrome 7, LEOPARD syndrome 3, Cardiovascular phenotype,
not specified, RASopathy | Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140534597
- GRCh38:
- Chr7:140834797
| BRAF | G106R, G54R, G72R | not specified, Noonan syndrome 7, LEOPARD syndrome 3,
RASopathy | Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140534444
- GRCh38:
- Chr7:140834644
| BRAF | V157I, V123I, V105I | not specified, Noonan syndrome 7, LEOPARD syndrome 3,
RASopathy | Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140534659
- GRCh38:
- Chr7:140834859
| BRAF | Y85C, Y33C, Y51C | RASopathy, not provided, Noonan syndrome 7
| Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140434502
- GRCh38:
- Chr7:140734702
| BRAF | | not specified, Noonan syndrome 7, LEOPARD syndrome 3,
not provided, Cardiovascular phenotype, RASopathy
| Conflicting interpretations of pathogenicity
(Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140482804
- GRCh38:
- Chr7:140783004
| BRAF | | not provided, Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 1, Noonan syndrome 7, Colorectal cancer,
Melanoma, cutaneous malignant, susceptibility to, 1, Lung cancer, RASopathy
| Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140453059
- GRCh38:
- Chr7:140753259
| BRAF | | Melanoma, cutaneous malignant, susceptibility to, 1, Lung cancer, LEOPARD syndrome 3,
Noonan syndrome 7, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1,
Colorectal cancer, RASopathy, not specified,
not provided | Benign/Likely benign
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140481411
- GRCh38:
- Chr7:140781611
| BRAF | G466E, G378E, G414E, G429E, G432E, G444E, G469E, G506E | Noonan syndrome 7, RASopathy | Conflicting interpretations of pathogenicity
(Jan 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140487359
- GRCh38:
- Chr7:140787559
| BRAF | R389H, R301H, R337H, R355H, R392H | not specified, RASopathy, Noonan syndrome and Noonan-related syndrome,
Cardiofaciocutaneous syndrome 1, Lung carcinoma, Noonan syndrome 1,
LEOPARD syndrome 3, Noonan syndrome 7 | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140534476
- GRCh38:
- Chr7:140834676
| BRAF | R146Q, R112Q, R94Q | Cardiofaciocutaneous syndrome 1, Noonan syndrome 1, Lung carcinoma,
LEOPARD syndrome 3, Noonan syndrome 7, not specified,
not provided, Cardiofaciocutaneous syndrome 1, RASopathy
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140494281
- GRCh38:
- Chr7:140794481
| BRAF, LOC126860202 | | LEOPARD syndrome 3, Noonan syndrome 7, RASopathy,
not provided | Conflicting interpretations of pathogenicity
(May 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140494224
- GRCh38:
- Chr7:140794424
| BRAF, LOC126860202 | I342V, I254V, I290V, I308V, I345V | RASopathy | Uncertain significance
(Mar 19, 2020) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140434394
- GRCh38:
- Chr7:140734594
| BRAF | | LEOPARD syndrome 3, Noonan syndrome 7 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140434286
- GRCh38:
- Chr7:140734486
| BRAF | | LEOPARD syndrome 3, Noonan syndrome 7 | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140434010
- GRCh38:
- Chr7:140734210
| BRAF | | Noonan syndrome 7, LEOPARD syndrome 3 | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:140476832
- GRCh38:
- Chr7:140777032
| BRAF | L525P, L437P, L473P, L488P, L491P, L503P, L528P, L565P | Noonan syndrome 7, not provided | Pathogenic/Likely pathogenic
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140501333
- GRCh38:
- Chr7:140801533
| BRAF | F247L, F159L, F195L, F213L, F250L | Noonan syndrome and Noonan-related syndrome | Pathogenic
(May 10, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140549893
- GRCh38:
- Chr7:140850093
| BRAF | | not specified, RASopathy, Lung cancer,
Noonan syndrome 1, Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer, Melanoma, cutaneous malignant, susceptibility to, 1
| Benign/Likely benign
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140494287
- GRCh38:
- Chr7:140794487
| BRAF, LOC126860202 | | not specified, RASopathy, Colorectal cancer,
Noonan syndrome 1, Lung cancer, Cardiofaciocutaneous syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3, Noonan syndrome 7
| Benign/Likely benign
(Jun 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140501378
- GRCh38:
- Chr7:140801578
| BRAF | | not specified, RASopathy, Lung cancer,
Noonan syndrome 1, Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer, Melanoma, cutaneous malignant, susceptibility to, 1
| Benign/Likely benign
(May 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140434563
- GRCh38:
- Chr7:140734763
| BRAF | A712D, A690D, A660D, A624D, A675D, A715D, A678D, A752D | Cardio-facio-cutaneous syndrome, Noonan syndrome, not provided,
RASopathy, Noonan syndrome 7, Cardiofaciocutaneous syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, Lung cancer, LEOPARD syndrome 3,
Noonan syndrome 7, Colorectal cancer ...see more | Conflicting interpretations of pathogenicity
(Jun 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140434390
- GRCh38:
- Chr7:140734590
| BRAF | | RASopathy | Likely benign
(Jan 31, 2020) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140624508
- GRCh38:
- Chr7:140924708
| BRAF | | Noonan syndrome and Noonan-related syndrome, Noonan syndrome 7, LEOPARD syndrome 3,
not specified, not provided | Benign/Likely benign
(Jul 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140487403
- GRCh38:
- Chr7:140787603
| BRAF | | not specified, RASopathy, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, LEOPARD syndrome 3, Noonan syndrome 7,
Melanoma, cutaneous malignant, susceptibility to, 1, Colorectal cancer, Lung cancer
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140624432
- GRCh38:
- Chr7:140924632
| BRAF | E24D | not provided, RASopathy, LEOPARD syndrome 3,
Noonan syndrome 7 | Conflicting interpretations of pathogenicity
(May 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140507763
- GRCh38:
- Chr7:140807963
| BRAF | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140534538
- GRCh38:
- Chr7:140834738
| BRAF | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140434562
- GRCh38:
- Chr7:140734762
| BRAF | | Cardiovascular phenotype, not specified, not provided,
RASopathy, Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3,
Noonan syndrome 7, Melanoma, cutaneous malignant, susceptibility to, 1, Colorectal cancer,
Lung cancer, Noonan syndrome 1 ...see more | Benign/Likely benign
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140453192
- GRCh38:
- Chr7:140753392
| BRAF | N581K, N529K, N547K, N559K, N493K, N544K, N584K, N621K | Cardio-facio-cutaneous syndrome, not provided, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 1, Lung carcinoma, LEOPARD syndrome 3,
Noonan syndrome 7 | Pathogenic/Likely pathogenic
(Oct 31, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140476698
- GRCh38:
- Chr7:140776898
| BRAF | | not specified, RASopathy, LEOPARD syndrome 3,
Noonan syndrome 7 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:140482898
- GRCh38:
- Chr7:140783098
| BRAF | V413M, V325M, V453M, V379M, V361M, V416M | not specified, RASopathy, Noonan syndrome 7,
Lung cancer, Cardiofaciocutaneous syndrome 1, Noonan syndrome 1,
Melanoma, cutaneous malignant, susceptibility to, 1, LEOPARD syndrome 3, Noonan syndrome 7,
Colorectal cancer | Uncertain significance
(Feb 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140494180
- GRCh38:
- Chr7:140794380
| BRAF, LOC126860202 | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140439609
- GRCh38:
- Chr7:140739809
| BRAF | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140624522
- GRCh38:
- Chr7:140924722
| BRAF | | not specified, not provided, RASopathy,
Noonan syndrome 7, LEOPARD syndrome 3 | Benign/Likely benign
(Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140434463
- GRCh38:
- Chr7:140734663
| BRAF | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140449071
- GRCh38:
- Chr7:140749271
| BRAF | | RASopathy, Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1,
Lung cancer, Noonan syndrome 1, Colorectal cancer,
LEOPARD syndrome 3, Noonan syndrome 7, not specified
| Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140449150
- GRCh38:
- Chr7:140749350
| BRAF | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140453133
- GRCh38:
- Chr7:140753333
| BRAF | K601I, K513I, K549I, K564I, K567I, K579I, K604I, K641I | RASopathy, not provided, Noonan syndrome 7,
Cardiofaciocutaneous syndrome 1 | Pathogenic/Likely pathogenic
(May 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140477854
- GRCh38:
- Chr7:140778054
| BRAF | L485S, L397S, L525S, L463S, L433S, L448S, L451S, L488S | RASopathy | Likely pathogenic
(Feb 27, 2020) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140481425
- GRCh38:
- Chr7:140781625
| BRAF | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140481476
- GRCh38:
- Chr7:140781676
| BRAF | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140481511
- GRCh38:
- Chr7:140781711
| BRAF | | Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1, Lung cancer,
Noonan syndrome 1, Colorectal cancer, LEOPARD syndrome 3,
Noonan syndrome 7, not specified, RASopathy
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140482908
- GRCh38:
- Chr7:140783108
| BRAF | | RASopathy | Benign
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140501337
- GRCh38:
- Chr7:140801537
| BRAF | L245F, L211F, L157F, L248F, L193F | Noonan syndrome and Noonan-related syndrome | Pathogenic
(May 10, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140534514
- GRCh38:
- Chr7:140834714
| BRAF | | Cardiovascular phenotype, not specified, RASopathy,
Melanoma, cutaneous malignant, susceptibility to, 1, Cardiofaciocutaneous syndrome 1, Lung cancer,
Noonan syndrome 1, Colorectal cancer, LEOPARD syndrome 3,
Noonan syndrome 7, not provided ...see more | Benign/Likely benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140624426
- GRCh38:
- Chr7:140924626
| BRAF | E26D | Cardiovascular phenotype, Noonan syndrome and Noonan-related syndrome, not specified,
not provided, RASopathy, Noonan syndrome 7,
LEOPARD syndrome 3, Cardiofaciocutaneous syndrome 1 | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140624440
- GRCh38:
- Chr7:140924640
| BRAF | D22N | RASopathy | Benign
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140624468
- GRCh38:
- Chr7:140924668
| BRAF | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140476813
- GRCh38:
- Chr7:140777013
| BRAF | W531C, W443C, W479C, W494C, W497C, W509C, W534C, W571C | not provided, RASopathy | Pathogenic
(Jul 12, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140501351
- GRCh38:
- Chr7:140801551
| BRAF | T241P, T189P, T244P, T207P, T153P | Cardio-facio-cutaneous syndrome, not provided, Lung carcinoma,
Noonan syndrome 1, LEOPARD syndrome 3, Noonan syndrome 7,
Cardiofaciocutaneous syndrome 1, RASopathy, Noonan syndrome 7
| Pathogenic/Likely pathogenic
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140501350
- GRCh38:
- Chr7:140801550
| BRAF | T241R, T153R, T189R, T207R, T244R | Inborn genetic diseases, not provided, RASopathy
| Pathogenic
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140501350
- GRCh38:
- Chr7:140801550
| BRAF | T241M, T189M, T207M, T244M, T153M | LEOPARD syndrome 3, Noonan syndrome 1, Cardiofaciocutaneous syndrome 1,
Noonan syndrome 7, Lung carcinoma, BRAF-related condition,
Cardio-facio-cutaneous syndrome, not provided, RASopathy,
Noonan syndrome, Noonan syndrome 7Noonan syndrome 1,
Cardiofaciocutaneous syndrome 1, ...see more | Pathogenic/Likely pathogenic
(Sep 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140449165
- GRCh38:
- Chr7:140749365
| BRAF | D638E, D550E, D586E, D601E, D604E, D616E, D641E, D678E | Inborn genetic diseases, LEOPARD syndrome 3, Noonan syndrome 7,
Noonan syndrome 1, Cardiofaciocutaneous syndrome 1, Lung carcinoma,
not provided, RASopathy, Cardiofaciocutaneous syndrome 1
| Pathogenic/Likely pathogenic
(Jun 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140481402
- GRCh38:
- Chr7:140781602
| BRAF | G469E, G381E, G447E, G417E, G432E, G472E, G435E, G509E | Cardio-facio-cutaneous syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140501302
- GRCh38:
- Chr7:140801502
| BRAF | Q257R, Q205R, Q223R, Q260R, Q169R | Cardio-facio-cutaneous syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr7:140453146
- GRCh38:
- Chr7:140753346
| BRAF | L597V, L509V, L545V, L563V, L600V, L637V, L560V, L575V | Noonan syndrome and Noonan-related syndrome, Cardio-facio-cutaneous syndrome, Noonan syndrome,
Cardio-facio-cutaneous syndrome, not provided, RASopathy,
Noonan syndrome 7 | Pathogenic
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:140501336
- GRCh38:
- Chr7:140801536
| BRAF | A246P, A158P, A194P, A212P, A249P | Cardio-facio-cutaneous syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |