Institute for Genomic Medicine (IGM) Clinical Laboratory (Nationwide Children's Hospital), IGM - MGL

General information

Institute for Genomic Medicine (IGM) Clinical Laboratory, IGM - MGL
Nationwide Children's Hospital
575 Children’s Crossroads
Columbus
Ohio
United States - 43215
https://www.nationwidechildrens.org/specialties/institute-for-genomic-medicine
Organization ID: 506792

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 268

Gene

GeneSubmissionsLast Updated
AARS11Dec 14, 2018
ABCC92May 21, 2020
ACP51Dec 14, 2018
ACTB1May 21, 2020
ADAT31Dec 14, 2018
AHDC11Dec 14, 2018
ALDH18A11Dec 14, 2018
ALK1Mar 4, 2021
AMPD21May 21, 2020
ANKRD114May 21, 2020
ANO51Dec 14, 2018
AP4M12May 21, 2020
AP4S11May 21, 2020
APC1Dec 14, 2018
APTX1Dec 14, 2018
ARID1A2Feb 13, 2020
ARID1B1May 21, 2020
ARID21Feb 13, 2020
ARX1Feb 13, 2020
ASIC4-AS11Dec 14, 2018
ASMT1Dec 14, 2018
ATN12Dec 14, 2018
ATP6V1A1May 21, 2020
ATXN11Dec 14, 2018
ATXN31Dec 14, 2018
ATXN72Dec 14, 2018
AUTS21Dec 14, 2018
B3GLCT1Dec 14, 2018
BCAP311Dec 14, 2018
BCOR1Dec 14, 2018
BRAF2Dec 14, 2018
BRCA12Dec 14, 2018
BRCA22Dec 14, 2018
C2CD32Dec 14, 2018
CACNA1B1Dec 14, 2018
CACNA1C1May 21, 2020
CACNA1S1Dec 14, 2018
CAMTA11May 21, 2020
CAV31May 21, 2020
CBL1Jun 15, 2021
CCND21May 21, 2020
CDKL51Feb 13, 2020
CEP552Dec 14, 2018
CFHR51Dec 14, 2018
CFI1Dec 14, 2018
CFTR1Dec 14, 2018
CHD21May 21, 2020
CHD76May 21, 2020
CHRNB21Dec 14, 2018
COL11A11May 21, 2020
COL3A11May 21, 2020
COL5A11Dec 14, 2018
COL6A32Dec 14, 2018
CREBBP3May 21, 2020
CSF3R1Dec 14, 2018
CSNK2A12May 21, 2020
D2HGDH1Dec 14, 2018
DCHS11Dec 14, 2018
DDX3X2May 21, 2020
DHCR71Dec 14, 2018
DMXL21Dec 14, 2018
DNAI21Dec 14, 2018
DUOX21Dec 14, 2018
DVL11Dec 14, 2018
DYRK1A1May 21, 2020
EFTUD21May 21, 2020
EHMT13May 21, 2020
EPG51Dec 14, 2018
FBN11Dec 14, 2018
FGFR31Dec 14, 2018
FLG3May 21, 2020
FOXG11May 21, 2020
FOXP12May 21, 2020
GABRB21May 21, 2020
GABRB31May 21, 2020
GABRG21May 21, 2020
GLI21Dec 14, 2018
GLIS31Dec 14, 2018
GMPPA1Dec 14, 2018
GRIN2A1Dec 14, 2018
HBB2May 21, 2020
HDAC81Dec 14, 2018
HNRNPK1May 21, 2020
HRAS1May 21, 2020
HTT1Dec 14, 2018
HYLS11May 21, 2020
IDUA1May 21, 2020
IFT1401May 21, 2020
IGFALS1Dec 14, 2018
IL10RA1Dec 14, 2018
IQSEC25May 21, 2020
ITGB31Dec 14, 2018
JAK21Mar 6, 2020
KANSL11May 21, 2020
KAT6B1Dec 14, 2018
KATNIP1Dec 14, 2018
KCNQ12Dec 14, 2018
KCNT11Dec 14, 2018
KDM5C2May 21, 2020
KERA1May 21, 2020
KMT2D1May 21, 2020
KRT851Dec 14, 2018
LAMA21Dec 14, 2018
LDLR1Dec 14, 2018
LOC1027240581May 21, 2020
LOC1053710461May 21, 2020
LOC1060990621May 21, 2020
LOC1071335102May 21, 2020
LOC1086639962Dec 14, 2018
LOC1094614842Dec 14, 2018
LOC1100063191May 21, 2020
LOC1116744771Dec 14, 2018
LONP11Dec 14, 2018
LRRC561May 21, 2020
MAK1Dec 14, 2018
MEA11May 21, 2020
MECP21May 21, 2020
MED122May 21, 2020
MED13L1May 21, 2020
MED252May 21, 2020
MET1Sep 25, 2020
MYH72Dec 14, 2018
MYT1L2May 21, 2020
NAA101May 21, 2020
NADSYN11Dec 14, 2018
NBEA1May 21, 2020
NEB1Dec 14, 2018
NEDD4L1May 21, 2020
NLGN4X1Dec 14, 2018
NLRP121Dec 14, 2018
NOTCH11May 21, 2020
NPHP3-ACAD112May 21, 2020
NSD26May 21, 2020
NUBPL1May 21, 2020
OPA12May 21, 2020
PARN1May 21, 2020
PIGA2May 21, 2020
PIK3R19Feb 3, 2021
PIK3R21Feb 13, 2020
PKP23Dec 14, 2018
POLD11Dec 14, 2018
POLR3B1May 21, 2020
PPP2R1A1Jun 15, 2021
PPP2R5D1May 21, 2020
PRF11Dec 14, 2018
PRKAG21Dec 14, 2018
PRODH1Dec 14, 2018
PRRC2B1Mar 4, 2021
PTPN112May 21, 2020
PUF602May 21, 2020
PUS31May 21, 2020
PYCR11May 21, 2020
RAI12May 21, 2020
RBM281Dec 14, 2018
RBPMS1Sep 25, 2020
RPS241Dec 14, 2018
RPS6KA32May 21, 2020
RTEL11Dec 14, 2018
RTEL1-TNFRSF6B1Dec 14, 2018
RYR13May 21, 2020
RYR21Dec 14, 2018
SALL11May 21, 2020
SAMHD12May 21, 2020
SATB22May 21, 2020
SCAMP41Dec 14, 2018
SCN1A1May 21, 2020
SCN1B1Dec 14, 2018
SCN8A1May 21, 2020
SEC23B1Dec 14, 2018
SERPINC11May 21, 2020
SETBP11Dec 14, 2018
SETD51May 21, 2020
SHANK31May 21, 2020
SLC17A52May 21, 2020
SLC22A52May 21, 2020
SLC2A12May 21, 2020
SLC6A32May 21, 2020
SLC6A81Dec 14, 2018
SLX41Dec 14, 2018
SMAD41May 21, 2020
SMARCA21Dec 14, 2018
SMC1A1May 21, 2020
SMPD11Dec 14, 2018
SON1May 21, 2020
SRCAP3Dec 14, 2018
SRD5A22May 21, 2020
STXBP12May 21, 2020
SYNE11Dec 14, 2018
SYNGAP11May 21, 2020
TBCD2May 21, 2020
TBL1XR11May 21, 2020
TBP2Dec 14, 2018
TBX11May 21, 2020
TCF41May 21, 2020
TCN21Dec 14, 2018
TDP11Dec 14, 2018
TECPR21Dec 14, 2018
TGFBR11Dec 14, 2018
TGM61Dec 14, 2018
TMIE1Dec 14, 2018
TRIP121Feb 13, 2020
TRNT12May 21, 2020
TSC21Dec 14, 2018
TUBB4A1May 21, 2020
UBA52May 21, 2020
USP9X1Dec 14, 2018
ZBTB201Mar 6, 2020
ZEB22May 21, 2020
ZNF4691Dec 14, 2018
ZSWIM61Dec 14, 2018

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome1May 21, 2020
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2May 21, 2020
4p partial monosomy syndrome3May 21, 2020
AU-KLINE SYNDROME1May 21, 2020
Abortive cerebellar ataxia2May 21, 2020
Adams-Oliver syndrome 51May 21, 2020
Aicardi Goutieres syndrome 52May 21, 2020
Antithrombin III deficiency1May 21, 2020
Aortic valve disease 11May 21, 2020
Autism, susceptibility to, X-linked 31May 21, 2020
Autosomal dominant optic atrophy classic form2May 21, 2020
Autosomal dominant torsion dystonia 41May 21, 2020
Autosomal recessive cutis laxa type 2B1May 21, 2020
Autosomal recessive cutis laxa type 3B1May 21, 2020
Baraitser-Winter syndrome 11May 21, 2020
Basel-Vanagaite-Smirin-Yosef syndrome2May 21, 2020
Brugada syndrome 31May 21, 2020
CHARGE association2May 21, 2020
Cardiovascular phenotype1Dec 14, 2018
Central core myopathy3May 21, 2020
Cerebellar ataxia, nonprogressive, with mental retardation1May 21, 2020
Charcot-Marie-Tooth disease type 2B22May 21, 2020
Chromosome 2q32-q33 deletion syndrome2May 21, 2020
Coffin-Lowry syndrome2May 21, 2020
Coffin-Siris syndrome 11May 21, 2020
Coffin-Siris syndrome 61Feb 13, 2020
Cognitive impairment with or without cerebellar ataxia1May 21, 2020
Congenital muscular hypertrophy-cerebral syndrome1May 21, 2020
Cornea plana 21May 21, 2020
Corneal dystrophy, Fuchs endothelial, 31May 21, 2020
Costello syndrome1May 21, 2020
Dermatitis, atopic, 22May 21, 2020
Developmental and epileptic encephalopathy 921May 21, 2020
Developmental and epileptic encephalopathy 941May 21, 2020
Developmental and epileptic encephalopathy, 741May 21, 2020
Developmental malformations-deafness-dystonia syndrome1May 21, 2020
DiGeorge Syndrome1May 21, 2020
Distal myopathy, Tateyama type1May 21, 2020
Dyskeratosis congenita, autosomal recessive 61May 21, 2020
Dystonia 92May 21, 2020
Early infantile epileptic encephalopathy 131May 21, 2020
Early infantile epileptic encephalopathy 21Feb 13, 2020
Early infantile epileptic encephalopathy 42May 21, 2020
Ehlers-Danlos syndrome, type 41May 21, 2020
Elevated serum creatine phosphokinase1May 21, 2020
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum2May 21, 2020
Eosinophilia1Mar 6, 2020
Epilepsy, childhood absence 21May 21, 2020
Epileptic encephalopathy, early infantile, 11Feb 13, 2020
Epileptic encephalopathy, early infantile, 431May 21, 2020
Epileptic encephalopathy, early infantile, 442May 21, 2020
Epileptic encephalopathy, infantile or early childhood 31May 21, 2020
FG syndrome 11May 21, 2020
Familial hemiplegic migraine type 31May 21, 2020
Familial hypertrophic cardiomyopathy 11May 21, 2020
Fibrochondrogenesis 11May 21, 2020
GLUT1 deficiency syndrome 12May 21, 2020
GLUT1 deficiency syndrome 22May 21, 2020
Generalized epilepsy with febrile seizures plus, type 21May 21, 2020
Generalized juvenile polyposis/juvenile polyposis coli1May 21, 2020
Hb SS disease2May 21, 2020
Hurler syndrome1May 21, 2020
Hydranencephaly with renal aplasia-dysplasia2Dec 14, 2018
Hydrolethalus syndrome 11May 21, 2020
Hypertrichotic osteochondrodysplasia Cantu type1May 21, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia1May 21, 2020
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1May 21, 2020
Ichthyosis vulgaris2May 21, 2020
Infantile fibrosarcoma1Sep 25, 2020
Intellectual disability and seizures1May 21, 2020
Intellectual disability, autosomal dominant 491Feb 13, 2020
Juvenile myelomonocytic leukemia1Jun 15, 2021
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1May 21, 2020
KBG syndrome3May 21, 2020
Kabuki syndrome 11May 21, 2020
Kleefstra syndrome 13May 21, 2020
Koolen-de Vries syndrome1May 21, 2020
LEOPARD syndrome 12May 21, 2020
Lenz microphthalmia syndrome1May 21, 2020
Leukodystrophy, hypomyelinating, 61May 21, 2020
Long QT syndrome 91May 21, 2020
Mandibulofacial dysostosis-microcephaly syndrome1May 21, 2020
Marshall syndrome1May 21, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Feb 13, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31May 21, 2020
Mental retardation and distinctive facial features with or without cardiac defects1May 21, 2020
Mental retardation with language impairment and with or without autistic features1May 21, 2020
Mental retardation, X-linked 15May 21, 2020
Mental retardation, X-linked 1022May 21, 2020
Mental retardation, X-linked, syndromic 131May 21, 2020
Mental retardation, autosomal dominant 141Feb 13, 2020
Mental retardation, autosomal dominant 231May 21, 2020
Mental retardation, autosomal dominant 351May 21, 2020
Mental retardation, autosomal dominant 361Jun 15, 2021
Mental retardation, autosomal dominant 392May 21, 2020
Mental retardation, autosomal dominant 411May 21, 2020
Mental retardation, autosomal dominant 51May 21, 2020
Mental retardation, autosomal dominant 71May 21, 2020
Mental retardation, syndromic, Claes-Jensen type, X-linked1May 21, 2020
Metachondromatosis2May 21, 2020
Minicore myopathy with external ophthalmoplegia3May 21, 2020
Mitochondrial complex 1 deficiency, nuclear type 211May 21, 2020
Mowat-Wilson syndrome2May 21, 2020
Mucopolysaccharidosis, MPS-I-H/S1May 21, 2020
Mucopolysaccharidosis, MPS-I-S1May 21, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 22May 21, 2020
Myeloproliferative disorder1Mar 6, 2020
Myhre syndrome1May 21, 2020
N-terminal acetyltransferase deficiency1May 21, 2020
Noonan syndrome 12May 21, 2020
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Jun 15, 2021
Ohdo syndrome, X-linked1May 21, 2020
Okur-chung neurodevelopmental syndrome2May 21, 2020
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2May 21, 2020
Parkinsonism-dystonia, infantile, 12May 21, 2020
Paroxysmal nocturnal hemoglobinuria 12May 21, 2020
Periventricular nodular heterotopia 71May 21, 2020
Pierpont syndrome1May 21, 2020
Pitt-Hopkins syndrome1May 21, 2020
Pontocerebellar hypoplasia, type 91May 21, 2020
Pre-B-cell acute lymphoblastic leukemia1Mar 6, 2020
Rasopathy2Dec 14, 2018
Renal carnitine transport defect2May 21, 2020
Retinitis pigmentosa 801May 21, 2020
Retinitis pigmentosa and erythrocytic microcytosis2May 21, 2020
Rett syndrome1May 21, 2020
Rett syndrome, congenital variant1May 21, 2020
Rippling muscle disease 21May 21, 2020
Rubinstein-Taybi syndrome 13May 21, 2020
Saldino-Mainzer syndrome1May 21, 2020
Salla disease2May 21, 2020
Seizures, benign familial infantile, 51May 21, 2020
Severe myoclonic epilepsy in infancy1May 21, 2020
Severe neonatal-onset encephalopathy with microcephaly1May 21, 2020
Shprintzen syndrome1May 21, 2020
Sialic acid storage disease, severe infantile type2May 21, 2020
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay2May 21, 2020
Smith-Magenis syndrome1May 21, 2020
Spastic paraplegia 50, autosomal recessive2May 21, 2020
Spastic paraplegia 52, autosomal recessive1May 21, 2020
Spastic paraplegia 63, autosomal recessive1May 21, 2020
Stickler syndrome type 21May 21, 2020
Stomatin-deficient cryohydrocytosis with neurologic defects2May 21, 2020
Syndromic X-linked intellectual disability Lubs type1May 21, 2020
Tetralogy of Fallot1May 21, 2020
Timothy syndrome1May 21, 2020
Townes-Brocks syndrome 11May 21, 2020
Transposition of the great arteries, dextro-looped 11May 21, 2020
Vascular Malformations and Overgrowth9Feb 3, 2021
Verheij syndrome1May 21, 2020
Wolf-Hirschhorn like syndrome3Dec 14, 2018
X-linked mental retardation with marfanoid habitus syndrome1May 21, 2020
ZTTK syndrome1May 21, 2020
epithelioid tumor of the omentum1Mar 4, 2021
not specified115Dec 14, 2018
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