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CSER _CC_NCGL (University of Washington), CSER _CC_NCGL

General information

CSER _CC_NCGL, CSER _CC_NCGL
University of Washington
Seattle
United States
http://uwcpdx.org/nw-clinical-genomics-laboratory/
Organization ID: 505295

Personnel

  • Michael Dorschner, Lab Director
    Phone: 206.543.5464
    Email: mod@uw.edu

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 818

Gene

GeneSubmissionsLast Updated
ACVRL15Sep 30, 2018
APC29Sep 30, 2018
APOB3Dec 2, 2016
ATM2Dec 2, 2016
ATP7B4Nov 22, 2015
AXIN24Sep 30, 2018
B3GALT21Mar 11, 2015
BLM2Feb 29, 2016
BMPR1A2Nov 7, 2016
BRCA139Oct 25, 2017
BRCA238Oct 25, 2017
C11orf652Dec 2, 2016
CACNA1C5Oct 25, 2017
CACNA1C-AS14Dec 2, 2016
CACNA1S10Oct 25, 2017
CACNB211Oct 25, 2017
CDC732Mar 11, 2015
CDH17Oct 25, 2017
COL3A18Dec 2, 2016
DCC2Dec 2, 2016
DM1-AS1Oct 25, 2017
DMD10Dec 2, 2016
DMPK2Oct 25, 2017
DSC28Oct 25, 2017
DSG29Oct 25, 2017
DSG2-AS13Oct 25, 2017
DSP13Oct 25, 2017
ENG8Nov 22, 2015
EPCAM2Mar 11, 2015
FBN122Oct 25, 2017
FH2Aug 28, 2014
FLCN4Feb 29, 2016
GALNT121Oct 25, 2017
GBA1Feb 29, 2016
GCH12Aug 28, 2014
GJB21Feb 29, 2016
GLA3Oct 25, 2017
GREM11Dec 2, 2016
HCN41Oct 25, 2017
HMBS6Aug 28, 2014
KCNE17Oct 25, 2017
KCNE26Nov 22, 2015
KCNH217Feb 29, 2016
KCNJ23Aug 28, 2014
KCNQ117Nov 22, 2015
KCNQ1-AS12Nov 22, 2015
KIT4Feb 29, 2016
LDLR37Nov 22, 2015
LDLR-AS11Nov 22, 2015
LMNA14Oct 25, 2017
LOC1005073461Mar 11, 2015
LOC1027235664Mar 11, 2015
LOC1066279811Feb 29, 2016
LOC1070753171Oct 25, 2017
LOC1073033403Aug 28, 2014
LOC1101212692Aug 28, 2014
LOC1139399441Aug 28, 2014
LOC1148278501Aug 28, 2014
MEN13Mar 11, 2015
MET1Aug 28, 2014
MHRT3Nov 22, 2015
MIR68861Aug 28, 2014
MLH111Nov 22, 2015
MLH35Oct 25, 2017
MSH220Sep 30, 2018
MSH615Dec 2, 2016
MUTYH2Oct 25, 2017
MYBPC350Dec 2, 2016
MYH119Oct 25, 2017
MYH724Oct 25, 2017
MYL23Oct 25, 2017
MYL34Aug 28, 2014
MYLK5Oct 25, 2017
NBN1Oct 25, 2017
NDE15Dec 2, 2016
NSUN65Oct 25, 2017
OTC3Nov 22, 2015
PAH3Aug 28, 2014
PALB22Oct 25, 2017
PCSK92Dec 2, 2016
PKP211Nov 22, 2015
PMS12Sep 30, 2018
PMS210Sep 30, 2018
POLD17Oct 25, 2017
POLE6Sep 30, 2018
PRKAG21Aug 28, 2014
PRKAR1A1Aug 28, 2014
PROC11Nov 22, 2015
PROS113Nov 22, 2015
PTCH19Oct 25, 2017
PTEN1Aug 28, 2014
RBM204Oct 25, 2017
RET17Nov 22, 2015
RPL36A-HNRNPH23Oct 25, 2017
RYR156Oct 25, 2017
RYR212Oct 25, 2017
SCN5A36Dec 2, 2016
SDHB5Oct 25, 2017
SDHC2Mar 11, 2015
SDHD1Aug 28, 2014
SEMA4A3Sep 30, 2018
SERPINA17Aug 28, 2014
SERPINC16Nov 22, 2015
SGCD3Mar 11, 2015
SLC7A92Aug 28, 2014
SMAD41Aug 28, 2014
STK113Oct 25, 2017
TGFB31Oct 25, 2017
TGFBR11Aug 28, 2014
TGFBR23Nov 22, 2015
TMEM1272Aug 28, 2014
TNNI32Aug 28, 2014
TNNT24Nov 22, 2015
TP5310Oct 25, 2017
TPM11Aug 28, 2014
TSC11Dec 2, 2016
TSC218Oct 25, 2017
VHL6Oct 25, 2017
XRCC22Dec 2, 2016

Condition

NameSubmissionsLast Updated
Acute intermittent porphyria6Aug 28, 2014
Adenocarcinoma1Aug 28, 2014
Alpha-1-antitrypsin deficiency7Aug 28, 2014
Altered myosin contractile function1Aug 28, 2014
Andersen Tawil syndrome1Aug 28, 2014
Antithrombin deficiency6Nov 22, 2015
Aortic aneurysm2Nov 22, 2015
Aortic aneurysm, familial thoracic 42Feb 29, 2016
Aortic aneurysm, familial thoracic 63Mar 11, 2015
Aortic aneurysm, familial thoracic 71Feb 29, 2016
Arrhythmogenic right ventricular cardiomyopathy40Oct 25, 2017
Arrhythmogenic right ventricular dysplasia, familial 12Mar 11, 2015
Astrocytoma1Jul 29, 2016
Atrial fibrillation4Aug 28, 2014
Autosomal recessive limb-girdle muscular dystrophy type 2F1Aug 28, 2014
Axial myopathy, late-onset2Aug 28, 2014
Becker muscular dystrophy2Aug 28, 2014
Birt-Hogg-Dub syndrome1Aug 28, 2014
Bloom syndrome2Feb 29, 2016
Breast and colorectal cancer1Aug 28, 2014
Breast and/or ovarian cancer12Nov 22, 2015
Brugada syndrome16Oct 25, 2017
Brugada syndrome (shorter-than-normal QT interval)2Aug 28, 2014
Brugada syndrome, lidocaine-induced2Aug 28, 2014
Carcinoma of colon1Feb 29, 2016
Carcinoma of esophagus1Nov 22, 2015
Carcinoma of male breast1Aug 28, 2014
Cardiac arrhythmia2Aug 28, 2014
Cardiac conduction defect, nonspecific1Aug 28, 2014
Cardiomyopathy1Nov 22, 2015
Carney complex1Aug 28, 2014
Catecholaminergic polymorphic ventricular tachycardia type 12Aug 28, 2014
Central core myopathy3Aug 28, 2014
Charcot-Marie-Tooth disease1Aug 28, 2014
Colon polyps6Sep 30, 2018
Colorectal / endometrial cancer2Aug 28, 2014
Colorectal adenoma13Nov 22, 2015
Colorectal cancer30Sep 30, 2018
Colorectal cancer, early onset1Aug 28, 2014
Colorectal cancer, non-polyposis24Nov 22, 2015
Congenital aneurysm of ascending aorta2Aug 28, 2014
Congenital heart disease1Aug 28, 2014
Congenital muscular dystrophy1Aug 28, 2014
Congenital myopathy8Aug 28, 2014
Congenital myopathy with cores1Aug 28, 2014
Cowden syndrome1Aug 28, 2014
Cowden syndrome 11Aug 28, 2014
Cystinuria2Aug 28, 2014
Diarrhea 5, with tufting enteropathy, congenital1Aug 28, 2014
Dilated cardiomyopathy3Oct 25, 2017
Dilated cardiomyopathy with woolly hair and keratoderma1Aug 28, 2014
Dystonia, dopa-responsive1Aug 28, 2014
Early repolarization associated with ventricular fibrillation1Aug 28, 2014
Ehlers-Danlos syndrome, type 47Dec 2, 2016
Elevated basal serum calcitonin1Aug 28, 2014
Emery-Dreifuss muscular dystrophy1Aug 28, 2014
Endometrial carcinoma2Aug 28, 2014
Exertional myalgia, muscle stiffness and myoglobinuria1Aug 28, 2014
Fabry disease3Oct 25, 2017
Familial adenomatous polyposis 18Mar 11, 2015
Familial aortic aneurysms1Dec 2, 2016
Familial hypercholesterolemia 12Dec 2, 2016
Familial isolated arrhythmogenic right ventricular dysplasia5Nov 22, 2015
Familial multiple polyposis syndrome6Oct 25, 2017
Familial thoracic aortic aneurysm5Oct 25, 2017
Fumarase deficiency2Aug 28, 2014
Gastrointestinal polyposis2Aug 28, 2014
Gastrointestinal stromal tumor, familial2Feb 29, 2016
Gaucher disease1Feb 29, 2016
Gorlin syndrome7Oct 25, 2017
Haemorrhagic telangiectasia 16Nov 22, 2015
Haemorrhagic telangiectasia 24Aug 28, 2014
Hearing impairment1Feb 29, 2016
Hereditary Paraganglioma-Pheochromocytoma Syndromes1Oct 25, 2017
Hereditary breast and ovarian cancer syndrome17Oct 25, 2017
Hereditary diffuse gastric cancer3Oct 25, 2017
Hereditary hemorrhagic telangiectasia1Sep 30, 2018
Hereditary hemorrhagic telangiectasia type 12Mar 11, 2015
Hereditary mixed polyposis syndrome1Dec 2, 2016
Hirschsprung disease9Nov 22, 2015
Holoprosencephaly sequence1Aug 28, 2014
Hyperammonemia1Nov 22, 2015
Hypercholesterolaemia37Nov 22, 2015
Hypercholesterolemia3Dec 2, 2016
Hyperparathyroidism2Aug 28, 2014
Hyperparathyroidism 22Mar 11, 2015
Hyperphenylalaninaemia1Aug 28, 2014
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency1Aug 28, 2014
Hypertrophic cardiomyopathy5Oct 25, 2017
Hypokalemic periodic paralysis1Aug 28, 2014
Increased left ventricular wall thickness3Nov 22, 2015
Insulin resistance syndrome, type A1Nov 22, 2015
Jervell and Lange-Nielsen syndrome 11Aug 28, 2014
Juvenile polyposis syndrome1Nov 7, 2016
Li-Fraumeni syndrome5Oct 25, 2017
Loeys-Dietz syndrome 12Nov 22, 2015
Long QT syndrome58Oct 25, 2017
Long QT syndrome 24Nov 22, 2015
Long QT syndrome, drug-associated2Aug 28, 2014
Lymphoedema1Aug 28, 2014
Lynch syndrome16Sep 30, 2018
MUTYH-associated polyposis1Oct 25, 2017
MYH-associated polyposis1Dec 2, 2016
Malignant hyperthermia14Oct 25, 2017
Malignant hyperthermia and exertional rhabdomyolosis2Aug 28, 2014
Malignant hyperthermia equivocal with halotane1Aug 28, 2014
Malignant hyperthermia susceptibility3Feb 29, 2016
Malignant hyperthermia, susceptibility to, 123Aug 28, 2014
Malignant tumor of colon2Dec 2, 2016
Malignant tumor of prostate2Nov 22, 2015
Mandibuloacral dysplasia1Aug 28, 2014
Marfan syndrome21Oct 25, 2017
Marfan syndrome, incomplete1Aug 28, 2014
Medullary thyroid carcinoma5Nov 22, 2015
Metabolic disease1Aug 28, 2014
Multi-minicore disease and atypical periodic paralysis1Aug 28, 2014
Multiminicore Disease2Aug 28, 2014
Multiminicore/minicore/multicore disease1Aug 28, 2014
Multiple endocrine neoplasia, type 11Mar 11, 2015
Multiple endocrine neoplasia, type 21Aug 28, 2014
Multiple endocrine neoplasia, type 2a1Nov 22, 2015
Multiple fibrofolliculomas2Feb 29, 2016
Muscular dystrophy1Aug 28, 2014
Muscular dystrophy and arthrogryposis1Aug 28, 2014
Myopathy, RYR1-associated2Aug 28, 2014
Myopathy, progressive axial with cataracts1Aug 28, 2014
Myotonic dystrophy2Oct 25, 2017
Neoplasm of stomach3Aug 28, 2014
Neoplasm of the breast45Dec 2, 2016
Nodal rhythm1Aug 28, 2014
Oligodontia3Sep 30, 2018
Ornithine carbamoyltransferase deficiency2Aug 28, 2014
Orofacial cleft1Aug 28, 2014
Ovarian cancer6Nov 22, 2015
PRKAG2 cardiac syndrome1Aug 28, 2014
Partial albinism2Nov 22, 2015
Partial lipodystrophy, Dunnigan2Aug 28, 2014
Peutz-Jeghers syndrome3Oct 25, 2017
Phenylketonuria2Aug 28, 2014
Pheochromocytoma7Mar 11, 2015
Pneumothorax, primary spontaneous1Aug 28, 2014
Polycythemia (disease)1Aug 28, 2014
Polymorphic ventricular tachycardia3Aug 28, 2014
Primary dilated cardiomyopathy24Dec 2, 2016
Primary familial hypertrophic cardiomyopathy74Nov 22, 2015
Renal cell carcinoma, papillary, 12Aug 28, 2014
Rhabdomyosarcoma (disease)1Aug 28, 2014
SUDDEN INFANT DEATH SYNDROME3Nov 22, 2015
Sarcoma1Aug 28, 2014
Sudden cardiac death1Aug 28, 2014
Thrombophilia due to protein S deficiency, autosomal dominant13Nov 22, 2015
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant11Nov 22, 2015
Tuberous sclerosis 21Feb 29, 2016
Tuberous sclerosis and lymphangiomyomatosis1Aug 28, 2014
Tuberous sclerosis syndrome17Oct 25, 2017
Turcot syndrome2Aug 28, 2014
Ventricular fibrillation, idiopathic1Aug 28, 2014
Von Hippel-Lindau syndrome5Oct 25, 2017
Wilson disease4Nov 22, 2015
breast cancer2Oct 25, 2017
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