UNC Molecular Genetics Laboratory (University of North Carolina at Chapel Hill), UNC MGL

General information

UNC Molecular Genetics Laboratory, UNC MGL
University of North Carolina at Chapel Hill
Campus Box 7525
Chapel Hill
North Carolina
United States - 27599
https://www.uncmedicalcenter.org/mclendon-clinical-laboratories/directory/molecular-pathology-and-genetics/
Organization ID: 506663

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 383

Gene

GeneSubmissionsLast Updated
AARS21Feb 26, 2020
ACADM3Feb 26, 2020
ACTN41Aug 26, 2021
AGK1Feb 26, 2020
ANGPT21Feb 26, 2020
APTX1Feb 26, 2020
ARID21Apr 16, 2021
ASH1L1Mar 8, 2020
ASL1Feb 26, 2020
ASXL31Mar 8, 2020
ATP13A22Feb 26, 2020
ATP7B1Feb 26, 2020
BBS11Feb 26, 2020
BCKDHA1Feb 26, 2020
BRCA21Feb 26, 2020
BRPF11Apr 16, 2021
BSND2Apr 16, 2021
CACNA1G1Apr 16, 2021
CCDC1033Aug 26, 2021
CCDC394Aug 26, 2021
CCDC409Aug 27, 2021
CCDC652Aug 26, 2021
CCNO2Aug 26, 2021
CD361Feb 26, 2020
CDCA7L2Aug 26, 2021
CDK5RAP21Feb 26, 2020
CEP2901Feb 26, 2020
CFTR2Feb 26, 2020
CFTR-AS12Feb 26, 2020
CHD81Apr 16, 2021
CLCN11Mar 8, 2020
COL1A21Apr 16, 2021
COL4A21Mar 8, 2020
COL4A2-AS11Mar 8, 2020
COL4A34Aug 26, 2021
COL4A47Aug 26, 2021
COL4A54Aug 26, 2021
COL4A61Aug 26, 2021
CREBBP1Mar 8, 2020
CSNK2B1Mar 8, 2020
CYP21A21Feb 26, 2020
DAG11Mar 8, 2020
DARS21Feb 26, 2020
DISP11Apr 16, 2021
DNAAF15Aug 26, 2021
DNAAF111Aug 26, 2021
DNAAF22Aug 26, 2021
DNAAF31Aug 26, 2021
DNAAF43Aug 26, 2021
DNAAF4-CCPG13Aug 26, 2021
DNAAF52Aug 26, 2021
DNAH122Aug 26, 2021
DNAH1122Aug 26, 2021
DNAH529Aug 26, 2021
DNAH815Aug 26, 2021
DNAH8-AS13Aug 26, 2021
DNAH97Aug 26, 2021
DNAI16Aug 26, 2021
DNAI22Aug 26, 2021
DNAJB131Aug 26, 2021
DOCK81Feb 26, 2020
DRC11Aug 26, 2021
DSC21Feb 26, 2020
DYNC2H11Feb 26, 2020
ERCC61Feb 26, 2020
F112Feb 26, 2020
F11-AS12Feb 26, 2020
F51Feb 26, 2020
F71Feb 26, 2020
FAT42Apr 16, 2021
FBN11Apr 16, 2021
G6PC11Feb 26, 2020
G6PD2Feb 26, 2020
GAA1Feb 26, 2020
GALT2Feb 26, 2020
GAS81Aug 26, 2021
GJB22Feb 26, 2020
GNE1Feb 26, 2020
GNRHR1Feb 26, 2020
GUSB1Feb 26, 2020
HFE2Feb 26, 2020
HFE-AS11Feb 26, 2020
HPS31Feb 26, 2020
HSD17B41Mar 8, 2020
IDUA2Feb 26, 2020
IFIH11Mar 8, 2020
IGF1R1Mar 8, 2020
IGHMBP21Feb 26, 2020
INF22Aug 26, 2021
INTS12Apr 16, 2021
IQSEC21Mar 8, 2020
IRAIN1Mar 8, 2020
KCNQ51Apr 16, 2021
KIAA05861Feb 26, 2020
KIAA11092Apr 16, 2021
KMT2C1Apr 16, 2021
KMT2D2Apr 16, 2021
LAMB11Mar 8, 2020
LAMB24Aug 26, 2021
LDLR1Feb 26, 2020
LIX1L-AS11Feb 26, 2020
LOC1067808001Feb 26, 2020
LOXHD12Feb 26, 2020
LTBP21Mar 8, 2020
MAOA1Apr 16, 2021
MARVELD21Feb 26, 2020
MBD51Mar 8, 2020
MCCC11Feb 26, 2020
MCIDAS1Aug 26, 2021
MCPH11Feb 26, 2020
MED121Apr 16, 2021
MFF-DT4Aug 26, 2021
MLYCD1Feb 26, 2020
MMAB1Feb 26, 2020
MMACHC1Feb 26, 2020
MPL1Feb 26, 2020
MYH141Feb 26, 2020
MYH31Apr 16, 2021
MYH94Aug 26, 2021
MYO1E1Aug 26, 2021
MYO3A1Feb 26, 2020
MYO7A1Feb 26, 2020
NDUFS11Mar 8, 2020
NOC3L1Aug 26, 2021
NPHS14Aug 26, 2021
NR2E31Feb 26, 2020
NSD11Mar 8, 2020
OCRL1Feb 26, 2020
ODAD11Aug 26, 2021
ODAD23Aug 26, 2021
ODAD34Aug 26, 2021
OFD14Aug 26, 2021
OTC1Feb 26, 2020
PAH9Feb 26, 2020
PDZD72Mar 8, 2020
PEX12Mar 8, 2020
PFKM1Feb 26, 2020
PHYH1Feb 26, 2020
PLCE14Aug 26, 2021
PMM21Feb 26, 2020
POLG1Feb 26, 2020
POLR1C1Feb 26, 2020
POLR2F1Feb 26, 2020
PTEN2Apr 16, 2021
RAD51C1Feb 26, 2020
RAG11Aug 26, 2021
RBM8A1Feb 26, 2020
RNASEH2B1Feb 26, 2020
RNASEH2B-AS11Feb 26, 2020
RPE651Feb 26, 2020
RPGR4Aug 26, 2021
RSPH11Aug 26, 2021
RSPH32Aug 26, 2021
RSPH4A10Aug 26, 2021
SAMHD12Aug 9, 2018
SATB21Apr 16, 2021
SCN8A1Apr 16, 2021
SERPINA13Feb 26, 2020
SHANK22Apr 16, 2021
SHANK31Mar 8, 2020
SIL12Mar 8, 2020
SLC17A51Aug 26, 2021
SLC22A51Feb 26, 2020
SLC26A11Feb 26, 2020
SLC26A43Feb 26, 2020
SLC7A91Feb 26, 2020
SMARCAL11Feb 26, 2020
SOX101Feb 26, 2020
SOX51Mar 8, 2020
SPAG14Aug 26, 2021
SUMF11Mar 8, 2020
SURF11Mar 8, 2020
TBCEL-TECTA1Feb 26, 2020
TCN21Mar 8, 2020
TECTA1Feb 26, 2020
TELO22Mar 8, 2020
THOC21Mar 8, 2020
TMPRSS32Feb 26, 2020
TRIO1Apr 16, 2021
TRIP121Apr 16, 2021
TYR1Feb 26, 2020
USH2A5Feb 26, 2020
USH2A-AS11Feb 26, 2020
VWF1Feb 26, 2020
WRN1Feb 26, 2020
WT11Aug 26, 2021
XRCC41Mar 8, 2020
ZC4H21Apr 16, 2021
ZDHHC241Feb 26, 2020
ZEB21Apr 16, 2021
ZMYND103Aug 26, 2021
ZMYND112Apr 16, 2021
ZNF181Aug 26, 2021

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome1Mar 8, 2020
3 Methylcrotonyl-CoA carboxylase 1 deficiency1Feb 26, 2020
Aicardi Goutieres syndrome 21Feb 26, 2020
Aicardi Goutieres syndrome 52Aug 9, 2018
Aicardi-Goutieres syndrome 71Mar 8, 2020
Alkuraya-Kucinskas syndrome2Apr 16, 2021
Alpha-1-antitrypsin deficiency3Feb 26, 2020
Alport syndrome9Aug 26, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Feb 26, 2020
Argininosuccinate lyase deficiency1Feb 26, 2020
Arrhythmogenic right ventricular cardiomyopathy, type 111Feb 26, 2020
Ataxia-oculomotor apraxia type 11Feb 26, 2020
Autism spectrum disorder2Apr 16, 2021
Autism, susceptibility to, 181Apr 16, 2021
Bainbridge-Ropers syndrome1Mar 8, 2020
Bardet-Biedl syndrome1Feb 26, 2020
Bartter disease type 4a2Apr 16, 2021
Bifunctional peroxisomal enzyme deficiency1Mar 8, 2020
Breast-ovarian cancer, familial 31Feb 26, 2020
Brunner syndrome1Apr 16, 2021
CEP290-Related Disorders1Feb 26, 2020
Cerebrooculofacioskeletal syndrome 11Feb 26, 2020
Charcot-Marie-Tooth disease, axonal, type 2S1Feb 26, 2020
Chromosome 2q32-q33 deletion syndrome1Apr 16, 2021
Ciliary dyskinesia, primary, 71Feb 26, 2020
Clark-Baraitser syndrome1Apr 16, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Feb 26, 2020
Cobalamin C disease1Feb 26, 2020
Cockayne syndrome B1Feb 26, 2020
Coffin-Siris syndrome 61Apr 16, 2021
Cognitive impairment with or without cerebellar ataxia1Apr 16, 2021
Combined oxidative phosphorylation deficiency 81Feb 26, 2020
Congenital amegakaryocytic thrombocytopenia1Feb 26, 2020
Congenital disorder of glycosylation, type Ia1Feb 26, 2020
Congenital myotonia, autosomal recessive form1Mar 8, 2020
Cowden syndrome 11Apr 16, 2021
Cystic fibrosis2Feb 26, 2020
Cystinuria1Feb 26, 2020
DE SANCTIS-CACCHIONE SYNDROME1Feb 26, 2020
Deafness, autosomal dominant 121Feb 26, 2020
Deafness, autosomal dominant 41Feb 26, 2020
Deafness, autosomal recessive 1A2Feb 26, 2020
Deafness, autosomal recessive 301Feb 26, 2020
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct2Feb 26, 2020
Deafness, autosomal recessive 491Feb 26, 2020
Deafness, autosomal recessive 572Mar 8, 2020
Deafness, autosomal recessive 772Feb 26, 2020
Deafness, autosomal recessive 82Feb 26, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Feb 26, 2020
Deficiency of malonyl-CoA decarboxylase1Feb 26, 2020
Enhanced S-cone syndrome1Feb 26, 2020
FG syndrome 11Apr 16, 2021
Factor V deficiency1Feb 26, 2020
Factor VII deficiency1Feb 26, 2020
Familial hypercholesterolemia 11Feb 26, 2020
Focal segmental glomerulosclerosis8Aug 26, 2021
Freeman-Sheldon syndrome1Apr 16, 2021
GNE myopathy1Feb 26, 2020
Glomerulonephritis9Aug 26, 2021
Glucose 6 phosphate dehydrogenase deficiency2Feb 26, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Feb 26, 2020
Glycogen storage disease, type II1Feb 26, 2020
Glycogen storage disease, type VII1Feb 26, 2020
Growth delay due to insulin-like growth factor I resistance1Mar 8, 2020
Hemochromatosis type 12Feb 26, 2020
Hereditary breast and ovarian cancer syndrome1Feb 26, 2020
Hereditary factor XI deficiency disease2Feb 26, 2020
Hermansky-Pudlak syndrome 31Feb 26, 2020
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1Feb 26, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia1Feb 26, 2020
Intellectual developmental disorder with dysmorphic facies and ptosis1Apr 16, 2021
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Apr 16, 2021
Intellectual disability, autosomal dominant 461Apr 16, 2021
Intellectual disability, autosomal dominant 521Mar 8, 2020
Joubert syndrome 231Feb 26, 2020
Kabuki syndrome 12Apr 16, 2021
Kleefstra syndrome 21Apr 16, 2021
Kufor-Rakeb syndrome2Feb 26, 2020
Lamb-shaffer syndrome1Mar 8, 2020
Leber congenital amaurosis1Feb 26, 2020
Leigh syndrome1Mar 8, 2020
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Feb 26, 2020
Lissencephaly 51Mar 8, 2020
Lowe syndrome1Feb 26, 2020
MYO7A-Related Disorders1Feb 26, 2020
Maple syrup urine disease1Feb 26, 2020
Marfan syndrome1Apr 16, 2021
Marinesco-Sjögren syndrome2Mar 8, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency3Feb 26, 2020
Mental retardation, X-linked 11Mar 8, 2020
Mental retardation, X-linked 121Mar 8, 2020
Mental retardation, autosomal dominant 11Mar 8, 2020
Mental retardation, autosomal dominant 302Apr 16, 2021
Microform holoprosencephaly1Apr 16, 2021
Microscopic hematuria3Aug 26, 2021
Mitochondrial complex 1 deficiency, nuclear type 51Mar 8, 2020
Mowat-Wilson syndrome1Apr 16, 2021
Mucopolysaccharidosis type 12Feb 26, 2020
Mucopolysaccharidosis type 71Feb 26, 2020
Multiple sulfatase deficiency1Mar 8, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Mar 8, 2020
NR2E3-Related Disorders1Feb 26, 2020
Nephrotic syndrome9Aug 26, 2021
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies2Apr 16, 2021
Ornithine carbamoyltransferase deficiency1Feb 26, 2020
Osteogenesis imperfecta1Apr 16, 2021
POLG-related disorders1Feb 26, 2020
PTEN hamartoma tumor syndrome1Mar 8, 2020
Pendred syndrome1Feb 26, 2020
Peroxisome biogenesis disorder 1A (Zellweger)2Mar 8, 2020
Phenylketonuria9Feb 26, 2020
Phytanic acid storage disease1Feb 26, 2020
Platelet glycoprotein IV deficiency1Feb 26, 2020
Poirier-Bienvenu neurodevelopmental syndrome1Mar 8, 2020
Porencephaly 21Mar 8, 2020
Primary autosomal recessive microcephaly 11Feb 26, 2020
Primary autosomal recessive microcephaly 31Feb 26, 2020
Primary ciliary dyskinesia176Aug 27, 2021
Primary ciliary dyskinesia 231Feb 26, 2020
RPE65-Related Disorders1Feb 26, 2020
Radial aplasia-thrombocytopenia syndrome1Feb 26, 2020
Renal carnitine transport defect1Feb 26, 2020
Retinitis pigmentosa 201Feb 26, 2020
Retinitis pigmentosa 391Feb 26, 2020
Rubinstein-Taybi syndrome 11Mar 8, 2020
Schimke immuno-osseous dysplasia1Feb 26, 2020
Sengers syndrome1Feb 26, 2020
Short stature, microcephaly, and endocrine dysfunction1Mar 8, 2020
Short-rib thoracic dysplasia 14 with polydactyly1Feb 26, 2020
Short-rib thoracic dysplasia 3 with or without polydactyly1Feb 26, 2020
Sotos syndrome 11Mar 8, 2020
Spastic paraplegia 78, autosomal recessive2Feb 26, 2020
Spinal muscular atrophy, distal, autosomal recessive, 11Feb 26, 2020
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Apr 16, 2021
Thrombophilia due to factor V Leiden1Feb 26, 2020
Transcolabamin II deficiency1Mar 8, 2020
Tyrosinase-negative oculocutaneous albinism1Feb 26, 2020
USH2A-Related Disorders4Feb 26, 2020
Van Maldergem syndrome 22Apr 16, 2021
Vitamin B12-responsive methylmalonic acidemia type cblB1Feb 26, 2020
Waardenburg syndrome type 2E1Feb 26, 2020
Weill-Marchesani syndrome 31Mar 8, 2020
Werner syndrome1Feb 26, 2020
Wieacker-Wolff syndrome, female-restricted1Apr 16, 2021
Wilson disease1Feb 26, 2020
You-Hoover-Fong syndrome2Mar 8, 2020
von Willebrand disease type 21Feb 26, 2020
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