| - GRCh37:
- Chr3:12626038
- GRCh38:
- Chr3:12584539
| RAF1 | T527R, T560R, T580R, T608R, T641R, T661R | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12660060
- GRCh38:
- Chr3:12618561
| RAF1 | Q11K, T54K | Noonan syndrome 5, Dilated cardiomyopathy 1NN, LEOPARD syndrome 2
| Uncertain significance
(Mar 30, 2021) | criteria provided, single submitter |
| - GRCh38:
- Chr3:12589035-12766981
| LOC129936181, LOC129936182, LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 | | Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12645037
- GRCh38:
- Chr3:12603538
| RAF1 | | Dilated cardiomyopathy 1NN, Noonan syndrome 5, LEOPARD syndrome 2,
Noonan syndrome 5 | Conflicting interpretations of pathogenicity
(May 11, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12660160
- GRCh38:
- Chr3:12618661
| RAF1 | V21M | RASopathy, See cases | Likely benign
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12650823
- GRCh38:
- Chr3:12609324
| RAF1 | R30H, R111H | Cardiovascular phenotype, RASopathy, LEOPARD syndrome 2
| Uncertain significance
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12705392
- GRCh38:
- Chr3:12663893
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12705344
- GRCh38:
- Chr3:12663845
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2, Dilated cardiomyopathy 1NN,
Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12705338
- GRCh38:
- Chr3:12663839
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12641906
- GRCh38:
- Chr3:12600407
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625893
- GRCh38:
- Chr3:12584394
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625366
- GRCh38:
- Chr3:12583867
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625307
- GRCh38:
- Chr3:12583808
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625173
- GRCh38:
- Chr3:12583674
| MKRN2, RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12705639
- GRCh38:
- Chr3:12664140
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12632375
- GRCh38:
- Chr3:12590876
| RAF1 | K370T, K398T, K431T, K350T, K317T, K451T | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625609
- GRCh38:
- Chr3:12584110
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625172
- GRCh38:
- Chr3:12583673
| MKRN2, RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12705549
- GRCh38:
- Chr3:12664050
| RAF1 | | Dilated cardiomyopathy 1NN, LEOPARD syndrome 2, Noonan syndrome 5,
Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Sep 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12625603
- GRCh38:
- Chr3:12584104
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12647726
- GRCh38:
- Chr3:12606227
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625940
- GRCh38:
- Chr3:12584441
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625903
- GRCh38:
- Chr3:12584404
| RAF1 | | not provided, LEOPARD syndrome 2, Noonan syndrome 5
| Benign/Likely benign
(Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12625385
- GRCh38:
- Chr3:12583886
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625383
- GRCh38:
- Chr3:12583884
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625370
- GRCh38:
- Chr3:12583871
| RAF1 | | Dilated cardiomyopathy 1NN, LEOPARD syndrome 2, Noonan syndrome 5,
LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jul 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12627253
- GRCh38:
- Chr3:12585754
| RAF1 | G407D, G508D, G427D, G488D, G374D, G455D | Dilated cardiomyopathy 1NN, Noonan syndrome 5, LEOPARD syndrome 2,
RASopathy | Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12645696
- GRCh38:
- Chr3:12604197
| RAF1 | T177R, T225R, T258R, T144R | LEOPARD syndrome 2 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12660190
- GRCh38:
- Chr3:12618691
| RAF1 | I11F | Noonan syndrome, Cardiovascular phenotype, RASopathy,
Noonan syndrome 5, Dilated cardiomyopathy 1NN, LEOPARD syndrome 2
| Uncertain significance
(Oct 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12626379
- GRCh38:
- Chr3:12584880
| RAF1 | K590N, K610N, K476N, K557N, K509N, K529N | LEOPARD syndrome 2, Noonan syndrome 5, Dilated cardiomyopathy 1NN,
RASopathy, not specified | Uncertain significance
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12653538
- GRCh38:
- Chr3:12612039
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5, not specified,
RASopathy | Conflicting interpretations of pathogenicity
(Apr 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12647780
- GRCh38:
- Chr3:12606281
| RAF1 | | not specified, Noonan syndrome 5, LEOPARD syndrome 2,
RASopathy | Conflicting interpretations of pathogenicity
(Oct 31, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12645681
- GRCh38:
- Chr3:12604182
| RAF1 | V263D, V149D, V230D, V182D | not provided, RASopathy, Noonan syndrome 3,
LEOPARD syndrome 2, Noonan syndrome 5, Dilated cardiomyopathy 1NN
| Pathogenic/Likely pathogenic
(Feb 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12641707
- GRCh38:
- Chr3:12600208
| RAF1 | V312M, V332M, V231M, V198M, V251M, V279M | RASopathy, Noonan syndrome 5, LEOPARD syndrome 2,
not specified, not provided, Noonan syndrome and Noonan-related syndrome
| Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12641708
- GRCh38:
- Chr3:12600209
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2, RASopathy
| Conflicting interpretations of pathogenicity
(Mar 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12660097
- GRCh38:
- Chr3:12618598
| RAF1 | A42T | RASopathy | Likely benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12650261
- GRCh38:
- Chr3:12608762
| RAF1 | | RASopathy | Likely benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12647779
- GRCh38:
- Chr3:12606280
| RAF1 | I201V, I120V | not provided, Noonan syndrome 5, Dilated cardiomyopathy 1NN,
LEOPARD syndrome 2, Cardiovascular phenotype, RASopathy
| Conflicting interpretations of pathogenicity
(Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12626093
- GRCh38:
- Chr3:12584594
| RAF1 | P623S, P562S, P590S, P509S, P542S, P643S | LEOPARD syndrome 2, Noonan syndrome 5, Dilated cardiomyopathy 1NN,
not provided | Uncertain significance
(Sep 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12650364
- GRCh38:
- Chr3:12608865
| RAF1 | N161S, N80S | Noonan syndrome 5, LEOPARD syndrome 2, Dilated cardiomyopathy 1NN,
not specified, Cardiovascular phenotype, RASopathy
| Uncertain significance
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12705466
- GRCh38:
- Chr3:12663967
| RAF1 | | Dilated cardiomyopathy 1NN, LEOPARD syndrome 2, Noonan syndrome 5,
Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12705431
- GRCh38:
- Chr3:12663932
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12705424
- GRCh38:
- Chr3:12663925
| RAF1 | | Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12705395
- GRCh38:
- Chr3:12663896
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12660200
- GRCh38:
- Chr3:12618701
| RAF1 | | Cardiovascular phenotype, not provided, Noonan syndrome 5,
RASopathy, not specified, LEOPARD syndrome 2
| Conflicting interpretations of pathogenicity
(May 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12660096
- GRCh38:
- Chr3:12618597
| RAF1 | A42V | RASopathy | Likely benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12625900
- GRCh38:
- Chr3:12584401
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625853
- GRCh38:
- Chr3:12584354
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625851
- GRCh38:
- Chr3:12584352
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625823
- GRCh38:
- Chr3:12584324
| RAF1 | | not provided, Noonan syndrome 5, LEOPARD syndrome 2
| Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12625665
- GRCh38:
- Chr3:12584166
| RAF1 | | LEOPARD syndrome 2, not provided, Noonan syndrome 5
| Benign/Likely benign
(May 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12625518
- GRCh38:
- Chr3:12584019
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625457
- GRCh38:
- Chr3:12583958
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Benign/Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625407
- GRCh38:
- Chr3:12583908
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Benign/Likely benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625386
- GRCh38:
- Chr3:12583887
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12625373
- GRCh38:
- Chr3:12583874
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr3:12650341
- GRCh38:
- Chr3:12608842
| RAF1 | G169R, G88R | Noonan syndrome 5, Dilated cardiomyopathy 1NN, LEOPARD syndrome 2,
Noonan syndrome 5, LEOPARD syndrome 2, not provided,
RASopathy | Conflicting interpretations of pathogenicity
(Nov 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12650384
- GRCh38:
- Chr3:12608885
| RAF1 | I154M, I73M | Cardiovascular phenotype, RASopathy, Noonan syndrome 5,
LEOPARD syndrome 2, not provided | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12650408
- GRCh38:
- Chr3:12608909
| RAF1 | F146L, F65L | RAF1-related condition, Noonan syndrome 5, LEOPARD syndrome 2,
Dilated cardiomyopathy 1NN, not provided, RASopathy
| Uncertain significance
(Dec 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12626146
- GRCh38:
- Chr3:12584647
| RAF1 | S605F, S524F, S491F, S544F, S625F, S572F | LEOPARD syndrome 2, Dilated cardiomyopathy 1NN, Noonan syndrome 5,
Cardiovascular phenotype, RASopathy, not provided,
not specified, LEOPARD syndrome 2, Noonan syndrome 5
| Uncertain significance
(Apr 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12653543
- GRCh38:
- Chr3:12612044
| RAF1 | M76V | not provided, Noonan syndrome, LEOPARD syndrome 2
| Uncertain significance
(Sep 22, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12633287
- GRCh38:
- Chr3:12591788
| RAF1 | | RASopathy | Likely benign
(Mar 9, 2020) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12650848
- GRCh38:
- Chr3:12609349
| RAF1 | | not specified, not provided, RASopathy,
Noonan syndrome 5, LEOPARD syndrome 2 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12626428
- GRCh38:
- Chr3:12584929
| RAF1 | Y574C, Y460C, Y541C, Y594C, Y493C, Y513C | Cardiovascular phenotype, not provided, not specified,
RASopathy, Noonan syndrome, Noonan syndrome 5,
LEOPARD syndrome 2, Primary familial hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12705494
- GRCh38:
- Chr3:12663995
| RAF1 | | LEOPARD syndrome 2, Noonan syndrome 5, Dilated cardiomyopathy 1NN,
Noonan syndrome 5, LEOPARD syndrome 2 | Uncertain significance
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12645693
- GRCh38:
- Chr3:12604194
| RAF1 | S259Y, S226Y, S145Y, S178Y | RASopathy | Pathogenic
(May 18, 2020) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12647694
- GRCh38:
- Chr3:12606195
| RAF1 | | RASopathy | Likely benign
(Jul 25, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12650411
- GRCh38:
- Chr3:12608912
| RAF1 | | not specified, not provided, RASopathy,
Noonan syndrome 5, LEOPARD syndrome 2, Dilated cardiomyopathy 1NN
| Likely benign
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12626019
- GRCh38:
- Chr3:12584520
| RAF1 | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12625747
- GRCh38:
- Chr3:12584248
| RAF1 | | not provided, LEOPARD syndrome 2, Noonan syndrome 5
| Benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12625930
- GRCh38:
- Chr3:12584431
| RAF1 | | not provided, LEOPARD syndrome 2, Noonan syndrome 5
| Benign
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12626046
- GRCh38:
- Chr3:12584547
| RAF1 | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12626130
- GRCh38:
- Chr3:12584631
| RAF1 | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12626394
- GRCh38:
- Chr3:12584895
| RAF1 | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12626493
- GRCh38:
- Chr3:12584994
| RAF1 | | Cardiovascular phenotype, not specified, RASopathy,
not provided, Noonan syndrome 5, LEOPARD syndrome 2
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12626660
- GRCh38:
- Chr3:12585161
| RAF1 | | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12633207
- GRCh38:
- Chr3:12591708
| RAF1 | R398L, R418L, R317L, R337L, R284L, R365L | RASopathy | Uncertain significance
(Dec 5, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12641216
- GRCh38:
- Chr3:12599717
| RAF1 | G361A, G381A, G247A, G280A, G328A, G300A | RASopathy | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12641718
- GRCh38:
- Chr3:12600219
| RAF1 | P308L, P328L, P275L, P227L, P194L, P247L | RASopathy | Benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12641732
- GRCh38:
- Chr3:12600233
| RAF1 | | RASopathy | Likely benign
(Apr 18, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12645688
- GRCh38:
- Chr3:12604189
| RAF1 | P261A, P180A, P147A, P228A | RASopathy, not provided, Noonan syndrome,
Primary familial hypertrophic cardiomyopathy, LEOPARD syndrome 2, Noonan syndrome 5,
Dilated cardiomyopathy 1NN | Pathogenic/Likely pathogenic
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12660099
- GRCh38:
- Chr3:12618600
| RAF1 | R41Q | Cardiovascular phenotype, not specified, Noonan syndrome and Noonan-related syndrome,
not provided, RASopathy, LEOPARD syndrome 2,
Noonan syndrome 5, Primary familial dilated cardiomyopathy | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12660102
- GRCh38:
- Chr3:12618603
| RAF1 | R40H | RASopathy | Benign
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12705305
- GRCh38:
- Chr3:12663806
| RAF1 | | not provided, Noonan syndrome 5, LEOPARD syndrome 2,
Noonan syndrome and Noonan-related syndrome | Conflicting interpretations of pathogenicity
(Jul 1, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12705486
- GRCh38:
- Chr3:12663987
| RAF1 | | not specified, not provided, Noonan syndrome 5,
LEOPARD syndrome 2 | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:12705489
- GRCh38:
- Chr3:12663990
| RAF1 | | RASopathy | Benign
(Nov 4, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12705552
- GRCh38:
- Chr3:12664053
| RAF1 | | RASopathy | Benign
(Jul 25, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12705566
- GRCh38:
- Chr3:12664067
| RAF1 | | not specified, not provided, LEOPARD syndrome 2,
Noonan syndrome 5 | Benign
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:12705621-12705622
- GRCh38:
- Chr3:12664122-12664123
| RAF1 | | RASopathy | Benign
(Nov 4, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12626123
- GRCh38:
- Chr3:12584624
| RAF1 | L613V, L633V, L499V, L580V, L552V, L532V | Noonan syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:12645699
- GRCh38:
- Chr3:12604200
| RAF1 | S257L, S224L, S143L, S176L | Noonan syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |