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Results: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:48581261
GRCh38:
Chr18:51054891
SMAD4not specified, not provided, Hereditary cancer-predisposing syndrome
GO-ESP:0.00154(T)
GMAF:0.00100(T)
Uncertain significance
(Sep 12, 2014)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr18:48604751
GRCh38:
Chr18:51078381
SMAD4Juvenile polyposis syndrome, not provided, Hereditary cancer-predisposing syndrome,
Gastrointestinal polyposis
GO-ESP:0.00085(G)Conflicting interpretations of pathogenicity
(Oct 6, 2014)
criteria provided, conflicting interpretations