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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

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
BRCA138Oct 6, 2023
BRCA255Oct 6, 2023
CACNA1C24Mar 10, 2015
CACNA1C-AS114Mar 10, 2015
CACNB219Mar 10, 2015
CALR35Mar 10, 2015
CASQ212May 1, 2018
CAV34Mar 10, 2015
CDC731Jul 15, 2012
CDH16Oct 3, 2023
CDKN2A9Jul 15, 2012
CEP85L1Mar 10, 2015
CLUAP12Sep 9, 2016
CNGB31Sep 13, 2019
CSRP32May 1, 2018
CYP51A11Mar 10, 2015
DES6May 1, 2018
DSC218May 1, 2018
DSG233May 1, 2018
DSG2-AS112May 1, 2018
DSP49May 1, 2018
DSP-AS12Mar 10, 2015
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
KCNQ110Dec 4, 2023
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
LOC1053708901May 1, 2018
LOC1053727914May 1, 2018
LOC1101212693May 1, 2018
LOC1101214863Mar 10, 2015
LOC1148278501May 1, 2018
LOC1148278516Mar 10, 2015
LOC1268060682Mar 10, 2015
LOC1268064205Mar 10, 2015
LOC1268064213Mar 10, 2015
LOC1268064226Mar 10, 2015
LOC1268064234Mar 10, 2015
LOC1268064245Mar 10, 2015
LOC1268064256Mar 10, 2015
LOC1268064265Mar 10, 2015
LOC12680642710Mar 10, 2015
LOC1268064288Mar 10, 2015
LOC1268064294Mar 10, 2015
LOC1268064306Mar 10, 2015
LOC1268064312Mar 10, 2015
LOC12680643217Mar 10, 2015
LOC1268064334Mar 10, 2015
LOC1268071366Mar 10, 2015
LOC1268071378Mar 10, 2015
LOC1268597661Mar 10, 2015
LOC1268613391Jul 15, 2012
LOC1268615382May 12, 2016
LOC1268618966Mar 10, 2015
LOC1268618972Mar 10, 2015
LOC1268618982Oct 29, 2024
LOC1268625719Jul 15, 2012
LOC1268629022Mar 1, 2016
LOC1293911062Mar 1, 2016
LOC1299351822Mar 10, 2015
LOC1299351834Mar 10, 2015
LOC1299351841Mar 10, 2015
LOC1299351851Mar 10, 2015
LOC1300656781Mar 10, 2015
MEN16Jul 15, 2012
MET24Oct 6, 2023
MHRT4Mar 10, 2015
MLH114Oct 3, 2023
MSH215Jul 15, 2012
MSH615Oct 6, 2023
MUTYH19Jan 2, 2024
MYBPC338Sep 13, 2019
MYH639May 1, 2018
MYH726Oct 29, 2024
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
OXTR4Mar 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
SCN5A35Oct 29, 2024
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 fibrillation2Mar 10, 2015
Autosomal dominant nonsyndromic hearing loss 486May 12, 2016
Autosomal recessive limb-girdle muscular dystrophy type 2E1Sep 13, 2019
Bardet-Biedl syndrome 101Sep 13, 2019
Breast-ovarian cancer, familial, susceptibility to, 12Oct 6, 2023
Breast-ovarian cancer, familial, susceptibility to, 27Oct 6, 2023
Brugada syndrome11May 1, 2018
CDH1-related diffuse gastric and lobular breast cancer syndrome1Oct 3, 2023
Cardiac arrhythmia8Mar 10, 2015
Catecholaminergic polymorphic ventricular tachycardia 12Mar 10, 2015
Colorectal cancer1Mar 10, 2015
Colorectal cancer, hereditary nonpolyposis, type 22Oct 3, 2023
Dilated cardiomyopathy 1E1Sep 13, 2019
Emery-Dreifuss muscular dystrophy1Mar 10, 2015
Familial adenomatous polyposis 24Jul 15, 2012
Familial aplasia of the vermis2Sep 9, 2016
Familial isolated arrhythmogenic right ventricular dysplasia2May 1, 2018
Familial medullary thyroid carcinoma1Sep 13, 2019
Heart failure1May 1, 2018
Hereditary breast ovarian cancer syndrome5Jul 15, 2012
Hypercholesterolemia, familial, 11Sep 13, 2019
Hypertrophic cardiomyopathy21Oct 29, 2024
Hypertrophic cardiomyopathy 41Sep 13, 2019
Increased left ventricular wall thickness1Mar 10, 2015
Left ventricular noncompaction cardiomyopathy1Mar 10, 2015
Limb-girdle muscular dystrophy2Mar 10, 2015
Long QT syndrome25May 1, 2018
Long QT syndrome 12Sep 13, 2019
Long QT syndrome 31Oct 29, 2024
Long QT syndrome, drug-associated2Mar 10, 2015
Lynch syndrome 41Sep 13, 2019
Lynch syndrome 52Oct 6, 2023
Malignant hyperthermia, susceptibility to, 178Mar 1, 2016
Microphthalmia, syndromic 13Jan 23, 2019
Myocardial infarction1Mar 10, 2015
Noise induced hearing loss1Mar 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
Sinoatrial node disorder1May 1, 2018
Sudden cardiac death2Mar 10, 2015
Torsades de pointes1Mar 10, 2015
Ventricular tachycardia1May 1, 2018
altered potassium channel function1Mar 10, 2015
not provided1559Jan 2, 2024
not specified399Mar 10, 2015