Laboratory of Genetics and Molecular Cardiology (University of São Paulo), LGCM
General information
Laboratory of Genetics and Molecular Cardiology, LGCM
University of São Paulo
Av. Dr Enéas de carvalho Aguiar, 44
São Paulo
Sao Paulo
Brazil - 05403-900
http://genetica.incor.usp.br
Organization ID: 505581
University of São Paulo
Av. Dr Enéas de carvalho Aguiar, 44
São Paulo
Sao Paulo
Brazil - 05403-900
http://genetica.incor.usp.br
Organization ID: 505581
Personnel
- Julia Marsiglia
Phone: +55 11 26615511
Email: julia.marsiglia@usp.br - Gabriele Darezzo, Genetic Counselor
Phone: +5516997090650
Email: darezzopessente@gamil.com - Theo Gremen, Staff
Phone: +551126615995
Email: theo.gremen@usp.br - Cinthia Jannes, Administrator
Phone: +551126615949
Email: cejannes@hotmail.com - Isabella Lima, Genetic Counselor
Phone: +5511986180754
Email: isabellalima.bmd@gmail.com - Alexandre Pereira, Administrator
Phone: +1(617)8523481
Email: alexandre.pereira@incor.usp.br - Gabrielle Pessente, Genetic Counselor
Phone: +5516997090650
Email: darezzopessente@gmail.com - Luciana Sacilotto, Genetic Counselor
Phone: +5511975414113
Email: lu.sacilotto@gmail.com - Mauricio Teruo, Genetic Counselor
Phone: +5511981652620
Email: teruo.biomed@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 375
Gene
Gene | Submissions | Last Updated |
---|---|---|
ACTC1 | 2 | Oct 30, 2015 |
ACTN2 | 1 | Oct 30, 2015 |
APOB | 63 | Aug 4, 2017 |
CSRP3 | 2 | Oct 30, 2015 |
FLNC | 1 | Oct 30, 2015 |
GJD2-DT | 2 | Oct 30, 2015 |
LDLR | 204 | Aug 4, 2017 |
LDLR-AS1 | 8 | Aug 4, 2017 |
LOC106560211 | 4 | Aug 4, 2017 |
LOC126861897 | 2 | Oct 30, 2015 |
LOC126861898 | 8 | Oct 30, 2015 |
MHRT | 4 | Oct 30, 2015 |
MIR6886 | 3 | Aug 4, 2017 |
MYBPC3 | 31 | Oct 30, 2015 |
MYH6 | 1 | Oct 30, 2015 |
MYH7 | 38 | Oct 30, 2015 |
MYL2 | 1 | Oct 30, 2015 |
MYL3 | 1 | Oct 30, 2015 |
MYLK2 | 1 | Oct 30, 2015 |
PCSK9 | 17 | Aug 4, 2017 |
RBM20 | 1 | Oct 30, 2015 |
SCN5A | 2 | Oct 30, 2015 |
SYNE1 | 1 | Oct 30, 2015 |
TCAP | 1 | Oct 30, 2015 |
TMEM43 | 1 | Oct 30, 2015 |
TNNI3 | 1 | Oct 30, 2015 |
TNNT2 | 3 | Oct 30, 2015 |
TPM1 | 1 | Oct 30, 2015 |
VCL | 1 | Oct 30, 2015 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Cardiomyopathy | 6 | Oct 30, 2015 |
Dilated cardiomyopathy 1AA | 1 | Oct 30, 2015 |
Hypercholesterolemia, familial, 1 | 284 | Aug 4, 2017 |
Hypertrophic cardiomyopathy 1 | 39 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 10 | 1 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 11 | 2 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 12 | 2 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 14 | 1 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 15 | 1 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 2 | 3 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 25 | 1 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 3 | 1 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 4 | 30 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 7 | 1 | Oct 30, 2015 |
Hypertrophic cardiomyopathy 8 | 1 | Oct 30, 2015 |
not specified | 1 | Oct 30, 2015 |