Human Genome Sequencing Center Clinical Lab (Baylor College of Medicine), HGSC-CL

General information

Human Genome Sequencing Center Clinical Lab, HGSC-CL
Baylor College of Medicine
One Baylor Plaza
Room R830
Houston
Texas
United States - 77030
http://hgsc.bcm.edu/
Organization ID: 500199

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 539

Gene

GeneSubmissionsLast Updated
ACTA21Apr 23, 2020
ACTA2-AS11Apr 23, 2020
ALK1Sep 6, 2020
APC3Apr 23, 2020
APOB7Apr 23, 2020
ATM22Apr 23, 2020
ATP1A21Apr 23, 2020
BMPR1A1Apr 23, 2020
BRCA140Sep 6, 2020
BRCA256Sep 6, 2020
C11orf6510Apr 23, 2020
CACNA1A3Apr 23, 2020
CACNA1S2Apr 23, 2020
CBL2Sep 6, 2020
CHEK215Apr 23, 2020
COL3A15Apr 23, 2020
COL5A17Apr 23, 2020
DICER12Sep 6, 2020
DSC25Apr 23, 2020
DSG27Apr 23, 2020
DSG2-AS13Apr 23, 2020
DSP8Apr 23, 2020
F112Apr 23, 2020
F51Jun 14, 2018
FBN19Apr 23, 2020
FLG1Jun 14, 2018
FLG-AS11Jun 14, 2018
GLA1Jun 14, 2018
HFE1Jun 14, 2018
HNF1A3Apr 23, 2020
HNF1B2Apr 23, 2020
HRAS2Sep 6, 2020
INSL61Jun 14, 2018
JAK21Jun 14, 2018
KCNE14Apr 23, 2020
KCNE21Jun 14, 2018
KCNH27Apr 23, 2020
KCNJ22Apr 23, 2020
KCNQ114Apr 23, 2020
KCNQ1-AS12Apr 23, 2020
KIF1A1Apr 27, 2020
LDLR53Apr 23, 2020
LDLR-AS11Apr 23, 2020
LMNA3Apr 23, 2020
LOC1073033402Apr 23, 2020
LOC1079822341Apr 23, 2020
LOC1139399441Apr 23, 2020
LRRC562Sep 6, 2020
MC4R3Jun 14, 2018
MED13L1Dec 10, 2019
MEFV1Jun 14, 2018
MEN12Apr 23, 2020
MHRT1Apr 23, 2020
MLH111Apr 23, 2020
MSH25Sep 6, 2020
MSH610Sep 6, 2020
MYBPC310Apr 23, 2020
MYH115Apr 23, 2020
MYH79Apr 23, 2020
MYL31Jun 14, 2018
MYLK3Apr 23, 2020
NDE12Apr 23, 2020
NF19Sep 6, 2020
OTC1Jun 14, 2018
PALB217Apr 23, 2020
PCSK94Apr 23, 2020
PKP211Apr 23, 2020
PMS214Sep 6, 2020
POLE1Apr 23, 2020
POLR2A11May 8, 2020
PTCH11Sep 6, 2020
PTEN6Sep 6, 2020
RET5Apr 23, 2020
RPL36A-HNRNPH21Jun 14, 2018
RYR122Apr 23, 2020
RYR26Apr 23, 2020
SCN5A11Apr 23, 2020
SDHA2Sep 6, 2020
SDHB2Jun 14, 2018
SDHC3Sep 6, 2020
SERPINA11Jun 14, 2018
SMAD31Jun 14, 2018
SMAD41Jun 14, 2018
STK112Apr 23, 2020
TGFBR23Apr 23, 2020
TMEM432Apr 23, 2020
TNNI33Apr 23, 2020
TNNT25Apr 23, 2020
TOR1A1Apr 23, 2020
TP5317Sep 6, 2020
TPM11Apr 23, 2020
TSC12Apr 23, 2020
TSC28Apr 23, 2020
TUSC31Dec 6, 2019
UMOD3Apr 23, 2020
VHL2Apr 23, 2020
WT12Apr 23, 2020

Condition

NameSubmissionsLast Updated
Alpha-1-antitrypsin deficiency1Jun 14, 2018
Alternating hemiplegia of childhood1Apr 23, 2020
Andersen Tawil syndrome2Apr 23, 2020
Aortic aneurysm, familial thoracic 45Apr 23, 2020
Aortic aneurysm, familial thoracic 61Apr 23, 2020
Aortic aneurysm, familial thoracic 73Apr 23, 2020
Arrhythmogenic right ventricular cardiomyopathy, type 104Jun 14, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 115Apr 23, 2020
Arrhythmogenic right ventricular dysplasia 88Apr 23, 2020
Arrhythmogenic right ventricular dysplasia 911Apr 23, 2020
Arrhythmogenic right ventricular dysplasia, type 52Apr 23, 2020
Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 103Apr 23, 2020
Ataxia-telangiectasia syndrome14Apr 23, 2020
Breast cancer, susceptibility to26Apr 23, 2020
Breast-ovarian cancer, familial 139Apr 23, 2020
Breast-ovarian cancer, familial 250Apr 23, 2020
Brugada syndrome 16Apr 23, 2020
Catecholaminergic polymorphic ventricular tachycardia type 16Apr 23, 2020
Colorectal cancer susceptibility 121Apr 23, 2020
Cowden syndrome 12Jun 14, 2018
Dilated cardiomyopathy 1A3Apr 23, 2020
Dystonia-1, torsion1Apr 23, 2020
Ehlers-Danlos syndrome, classic type I7Apr 23, 2020
Ehlers-Danlos syndrome, type 45Apr 23, 2020
Episodic ataxia type 23Apr 23, 2020
Fabry disease1Jun 14, 2018
Factor V deficiency1Jun 14, 2018
Factor XI1Apr 23, 2020
Familial Mediterranean fever1Jun 14, 2018
Familial adenomatous polyposis 13Apr 23, 2020
Familial cancer of breast28Jun 14, 2018
Familial hemiplegic migraine type 21Apr 23, 2020
Familial hypercholesterolemia31Apr 23, 2020
Familial hypercholesterolemia 128Jun 14, 2018
Familial hypercholesterolemia 21Jun 14, 2018
Familial hypercholesterolemia 34Apr 23, 2020
Familial hypertrophic cardiomyopathy 19Apr 23, 2020
Familial hypertrophic cardiomyopathy 23Apr 23, 2020
Familial hypertrophic cardiomyopathy 31Apr 23, 2020
Familial hypertrophic cardiomyopathy 410Apr 23, 2020
Familial hypertrophic cardiomyopathy 73Apr 23, 2020
Familial hypertrophic cardiomyopathy 81Jun 14, 2018
Familial juvenile gout3Apr 23, 2020
Hemochromatosis type 11Jun 14, 2018
Hereditary factor XI deficiency disease1Jun 14, 2018
Hereditary nonpolyposis colorectal cancer type 413Apr 23, 2020
Hereditary nonpolyposis colorectal cancer type 59Apr 23, 2020
Ichthyosis vulgaris1Jun 14, 2018
Intellectual disability3Dec 10, 2019
Intellectual disability, autosomal dominant 91Apr 27, 2020
Jervell and Lange-Nielsen syndrome 17Apr 23, 2020
Jervell and Lange-Nielsen syndrome 21Apr 23, 2020
Juvenile polyposis syndrome2Apr 23, 2020
Left ventricular noncompaction 65Apr 23, 2020
Li-Fraumeni syndrome4Apr 23, 2020
Li-Fraumeni syndrome 12Jun 14, 2018
Loeys-Dietz syndrome 23Apr 23, 2020
Loeys-Dietz syndrome 31Jun 14, 2018
Long QT syndrome 114Apr 23, 2020
Long QT syndrome 27Apr 23, 2020
Long QT syndrome 311Apr 23, 2020
Long QT syndrome 54Apr 23, 2020
Long QT syndrome 61Jun 14, 2018
Lynch syndrome I4Apr 23, 2020
Lynch syndrome II11Apr 23, 2020
Malignant hyperthermia, susceptibility to, 122Apr 23, 2020
Malignant hyperthermia, susceptibility to, 52Apr 23, 2020
Marfan syndrome9Apr 23, 2020
Maturity-onset diabetes of the young, type 33Apr 23, 2020
Multiple endocrine neoplasia, type 12Apr 23, 2020
Multiple endocrine neoplasia, type 2a5Apr 23, 2020
Multiple endocrine neoplasia, type 2b1Apr 23, 2020
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities10May 8, 2020
Obesity3Jun 14, 2018
Ornithine carbamoyltransferase deficiency1Jun 14, 2018
PTEN hamartoma tumor syndromes3Apr 23, 2020
Pancreatic cancer 37Apr 23, 2020
Paragangliomas 32Apr 23, 2020
Paragangliomas 42Jun 14, 2018
Peutz-Jeghers syndrome2Apr 23, 2020
Polycythemia vera1Jun 14, 2018
Prostate cancer, susceptibility to5Apr 23, 2020
Renal cysts and diabetes syndrome2Apr 23, 2020
Rhabdomyosarcoma (disease)42Sep 6, 2020
Tuberous sclerosis 12Apr 23, 2020
Tuberous sclerosis 28Apr 23, 2020
Von Hippel-Lindau syndrome2Apr 23, 2020
Wilms tumor 12Apr 23, 2020
not specified1May 8, 2020
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