Biesecker Lab/Clinical Genomics Section (National Institutes of Health)

General information

Biesecker Lab/Clinical Genomics Section
National Institutes of Health
Bethesda
Maryland
United States - 20892
http://www.genome.gov/10000356
Organization ID: 1160

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2243

Gene

GeneSubmissionsLast Updated
ABCC918Mar 10, 2015
ACTN219May 1, 2018
AKAP966Mar 10, 2015
AKT11Dec 23, 2019
ANK251Mar 10, 2015
ANKRD19May 1, 2018
APC44Jul 15, 2012
BAG318May 1, 2018
BBS101Sep 13, 2019
BMPR1A4Jul 15, 2012
BRCA138Jul 15, 2012
BRCA255Sep 13, 2019
CACNA1C24Mar 10, 2015
CACNA1C-AS114Mar 10, 2015
CACNB219Mar 10, 2015
CALR35Mar 10, 2015
CASQ212May 1, 2018
CAV34Mar 10, 2015
CDC731Jul 15, 2012
CDH16Jul 15, 2012
CDKN2A9Jul 15, 2012
CEP85L1Mar 10, 2015
CLUAP12Sep 9, 2016
CNGB31Sep 13, 2019
CSRP32May 1, 2018
DES6May 1, 2018
DSC218May 1, 2018
DSG233May 1, 2018
DSG2-AS112May 1, 2018
DSP49May 1, 2018
DTNA16Mar 10, 2015
EYA416Mar 10, 2015
FH5Jul 15, 2012
FLCN10Jul 15, 2012
GPD1L7Mar 10, 2015
HCN415May 1, 2018
JPH24Mar 10, 2015
JUP13Mar 10, 2015
KCNA514Mar 10, 2015
KCNE17May 1, 2018
KCNE24May 1, 2018
KCNE33Mar 10, 2015
KCNH217May 1, 2018
KCNJ22Mar 10, 2015
KCNK121Jul 15, 2012
KCNQ110Sep 13, 2019
KCNQ1-AS12Sep 13, 2019
KIT10Jul 15, 2012
LAMA438Mar 10, 2015
LAMA4-AS11Mar 10, 2015
LDB323Mar 10, 2015
LDLR1Sep 13, 2019
LIPT21Mar 10, 2015
LMNA7Mar 10, 2015
LOC1005073465Jul 15, 2012
LOC10192705514Mar 10, 2015
LOC1101212693May 1, 2018
LOC1101214863Mar 10, 2015
LOC1148278501May 1, 2018
LOC1148278516Mar 10, 2015
MEN16Jul 15, 2012
MET24Jul 15, 2012
MHRT4Mar 10, 2015
MLH114Jul 15, 2012
MSH215Jul 15, 2012
MSH615Sep 13, 2019
MUTYH19Jul 15, 2012
MYBPC338Sep 13, 2019
MYH639May 1, 2018
MYH726May 1, 2018
MYL25May 1, 2018
MYLK211Mar 10, 2015
MYO1A6May 12, 2016
MYOZ26Mar 10, 2015
MYPN32Mar 10, 2015
NAA103Jan 23, 2019
NF113Jul 15, 2012
NF21Jul 15, 2012
NSUN612Mar 10, 2015
PDGFRA13Jul 15, 2012
PKP232Mar 10, 2015
PLN1Mar 10, 2015
PMS226Sep 13, 2019
PSEN15May 1, 2018
PSEN212Mar 10, 2015
PTCH120Jul 15, 2012
PTEN1Jul 15, 2012
RB13Jul 15, 2012
RET16Sep 13, 2019
RYR178Mar 1, 2016
RYR238May 1, 2018
SCN1B6Feb 24, 2020
SCN2B3Mar 10, 2015
SCN3B3May 1, 2018
SCN4B5May 1, 2018
SCN5A35Sep 13, 2019
SDHAF22Jul 15, 2012
SDHB5Sep 13, 2019
SDHC5Jul 15, 2012
SDHD3Jul 15, 2012
SGCB1Sep 13, 2019
SGCD8Mar 10, 2015
SMAD42Jul 15, 2012
SMARCB11Jul 15, 2012
SNTA112Mar 10, 2015
TARID4Mar 10, 2015
TCAP6Mar 10, 2015
TGFB33Mar 10, 2015
TMEM4317Mar 10, 2015
TMPO27Mar 10, 2015
TNNC11May 1, 2018
TNNI31Mar 10, 2015
TNNT25Mar 10, 2015
TP532Jul 15, 2012
TPM12Mar 10, 2015
TSC116Jul 15, 2012
TSC227Jul 15, 2012
TTN769May 1, 2018
TTN-AS1386Mar 10, 2015
VCL19May 1, 2018
VHL1Jul 15, 2012
WT11Jul 15, 2012

Condition

NameSubmissionsLast Updated
Achromatopsia 31Sep 13, 2019
Alzheimer disease5Mar 10, 2015
Arrhythmogenic right ventricular cardiomyopathy23May 1, 2018
Atrial fibrillation3Mar 10, 2015
Autosomal recessive limb-girdle muscular dystrophy type 2E1Sep 13, 2019
Bardet-Biedl syndrome 101Sep 13, 2019
Breast-ovarian cancer, familial 24Sep 13, 2019
Brugada syndrome11May 1, 2018
Cardiac arrhythmia8Mar 10, 2015
Cardiomyopathy, left ventricular noncompaction1Mar 10, 2015
Catecholaminergic polymorphic ventricular tachycardia type 12Mar 10, 2015
Colorectal cancer1Mar 10, 2015
Deafness, autosomal dominant 486May 12, 2016
Dilated cardiomyopathy 1E1Sep 13, 2019
Emery-Dreifuss muscular dystrophy1Mar 10, 2015
Familial hypercholesterolemia 11Sep 13, 2019
Familial hypertrophic cardiomyopathy 41Sep 13, 2019
Familial isolated arrhythmogenic right ventricular dysplasia2May 1, 2018
Familial medullary thyroid carcinoma1Sep 13, 2019
Hearing loss, noise-induced, susceptibility to1Mar 10, 2015
Heart failure1May 1, 2018
Hereditary breast and ovarian cancer syndrome5Jul 15, 2012
Hereditary nonpolyposis colorectal cancer type 41Sep 13, 2019
Hereditary nonpolyposis colorectal cancer type 51Sep 13, 2019
Hypertrophic cardiomyopathy21May 1, 2018
Increased left ventricular wall thickness1Mar 10, 2015
Joubert syndrome2Sep 9, 2016
Limb-girdle muscular dystrophy2Mar 10, 2015
Long QT syndrome25May 1, 2018
Long QT syndrome 12Sep 13, 2019
Long QT syndrome, drug-associated2Mar 10, 2015
MYH-associated polyposis4Jul 15, 2012
Malignant hyperthermia, susceptibility to, 178Mar 1, 2016
Microphthalmia-ankyloblepharon-intellectual disability syndrome3Jan 23, 2019
Myocardial infarction1Mar 10, 2015
Paragangliomas 31Jul 15, 2012
Paragangliomas 41Sep 13, 2019
Periodic paralysis1Mar 10, 2015
Polymorphic ventricular tachycardia4May 1, 2018
Primary dilated cardiomyopathy25May 1, 2018
Primary familial hypertrophic cardiomyopathy13Mar 10, 2015
Proteus syndrome1Dec 23, 2019
Pulmonary Hypertension, Primary, 11Mar 10, 2015
SUDDEN INFANT DEATH SYNDROME3May 1, 2018
Sinus node disease1May 1, 2018
Sudden cardiac death2Mar 10, 2015
Torsades de pointes1Mar 10, 2015
Ventricular tachycardia1May 1, 2018
altered potassium channel function1Mar 10, 2015
not provided1568Feb 24, 2020
not specified399Mar 10, 2015

Testing in GTR

Disease nameNumber of tests
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
Greig cephalopolysyndactyly syndrome1 test
Pallister-Hall syndrome1 test
Proteus syndrome1 test
Support Center