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Items: 6

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:12626516
GRCh38:
Chr3:12585017
RAF1not specifiedGO-ESP:0.44241(A)
GMAF:0.36460(A)
Benign
(Mar 18, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr3:12645688
GRCh38:
Chr3:12604189
RAF1Noonan syndrome 5Pathogenic
(Oct 27, 2014)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr3:12645786
GRCh38:
Chr3:12604287
RAF1not providedUncertain significance
(Jun 10, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr3:12650408
GRCh38:
Chr3:12608909
RAF1not providedUncertain significance
(Jan 26, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr3:12660102
GRCh38:
Chr3:12618603
RAF1not specified, RasopathyGMAF:0.00040(T)Benign
(Jun 9, 2015)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:12660127
GRCh38:
Chr3:12618628
RAF1not provided, RasopathyConflicting interpretations of pathogenicity
(Dec 22, 2014)
criteria provided, conflicting interpretations
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