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Items: 11

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:39262417
GRCh38:
Chr2:39035276
SOS1not specified, RasopathyUncertain significance
(Aug 14, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr2:39262581
GRCh38:
Chr2:39035440
SOS1Noonan syndrome, not providedPathogenic
(Feb 22, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr2:39224112
GRCh38:
Chr2:38996971
SOS1Noonan syndrome, not specified, Rasopathy
Conflicting interpretations of pathogenicity
(Jan 6, 2017)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr2:39234309
GRCh38:
Chr2:39007168
SOS1Noonan syndrome, not provided, Rasopathy
Pathogenic
(Dec 12, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr2:39241107
GRCh38:
Chr2:39013966
SOS1not specified, RasopathyBenign
(Jan 16, 2017)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr2:39249914
GRCh38:
Chr2:39022773
SOS1Noonan syndrome 4, Noonan syndrome, not provided
Pathogenic
(Oct 14, 2015)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr2:39249927
GRCh38:
Chr2:39022786
SOS1Noonan syndrome, not providedPathogenic
(Nov 16, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:39250269
GRCh38:
Chr2:39023128
SOS1Noonan syndromePathogenic
(Nov 13, 2012)
criteria provided, single submitter
9.
GRCh37:
Chr2:39249915
GRCh38:
Chr2:39022774
SOS1Noonan syndrome 4, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Dec 20, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr2:39278343
GRCh38:
Chr2:39051202
SOS1Noonan syndrome 4, Noonan syndrome, not provided
Pathogenic
(Jan 6, 2017)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr2:39278352
GRCh38:
Chr2:39051211
SOS1Noonan syndrome 4, Noonan syndrome, not provided,
Rasopathy
Pathogenic
(Jul 15, 2016)
criteria provided, multiple submitters, no conflicts
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