Variant: rs121909280 

    present in Gene: CAV3;SSUH2
    present in Chromosome: 3
    Position on Chromosome: 8745602
    Alleles of this Variant: C/G

rs121909280 in CAV3;SSUH2 gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 14672715 2004 Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.