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Items: 3

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:38645558
Chr3:38645420
GRCh38:
Chr3:38604067
Chr3:38603929
SCN5AProgressive familial heart block type 1APathogenic
(Apr 15, 2008)
no assertion criteria provided
2.
GRCh37:
Chr3:38645558
GRCh38:
Chr3:38604067
SCN5ABrugada syndrome 1, Cardiac conduction defect, nonspecific, Brugada syndrome
Conflicting interpretations of pathogenicity
(Mar 27, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr3:38645420
GRCh38:
Chr3:38603929
SCN5ALong QT syndrome, Romano-Ward syndrome, Brugada syndrome,
not specified, not provided, Sick sinus syndrome,
Progressive familial heart block, Cardiovascular phenotype, Paroxysmal familial ventricular fibrillation,
Dilated Cardiomyopathy, Dominant
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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