Diagnostics Services (CSIR - Centre for Cellular and Molecular Biology), AIC-CCMB

General information

Diagnostics Services, AIC-CCMB
CSIR - Centre for Cellular and Molecular Biology
Medical Biotechnology Complex, CCMB Annexe II, Genpact Road,IDA Uppal, Habsiguda, Hyderabad – 500039 Telangana State
Hyderabad
India - 500039
https://aic.ccmb.res.in/
Organization ID: 507246

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 127

Gene

GeneSubmissionsLast Updated
ABCC83Sep 15, 2020
ABCD11Jan 21, 2021
ALDH3A21Feb 17, 2020
ARHGEF101Nov 29, 2019
ATP8B11Nov 29, 2019
BEST11Apr 16, 2020
C12orf602Apr 17, 2020
CA11Nov 27, 2019
CACNA1A1Jan 21, 2021
CAD1Mar 16, 2020
CENPF1Mar 18, 2020
CFTR1Jun 9, 2021
CHD41Jun 9, 2021
CHD71Nov 26, 2019
CHRNB21Apr 22, 2020
CLDN101Nov 27, 2019
COL7A12Jan 16, 2020
CPT21Jan 8, 2020
CR11Feb 14, 2020
CSF1R1Sep 16, 2020
CTNS1Nov 28, 2019
DMD1Jan 7, 2020
DNAJB61Mar 16, 2020
DNM21Nov 27, 2019
DOCK72Jun 9, 2021
DOCK82May 6, 2020
DOK71Feb 17, 2020
DPH21Nov 27, 2019
DYSF2Jul 21, 2020
EDNRB2Apr 16, 2020
EDNRB-AS12Apr 16, 2020
EPRS12Dec 30, 2019
ERCC61Apr 3, 2020
FBLN51Jan 21, 2021
FIG41Sep 16, 2020
FKRP1Jun 9, 2021
FLCN1Jun 9, 2021
GALK11Jun 9, 2021
GBA1Nov 27, 2019
GFM11Apr 22, 2020
GNE1Feb 17, 2020
GUCY2C2Apr 17, 2020
HADHB1Mar 19, 2020
HOXD131Apr 22, 2020
HPS12Nov 29, 2019
HTRA11Apr 16, 2020
HYDIN1Apr 16, 2020
IGF2R2Jun 9, 2021
ITGB41Jun 9, 2021
JAG11Mar 31, 2020
KARS11Nov 22, 2019
KCNJ11Nov 13, 2019
KCNJ111Nov 13, 2019
KMT2C1Nov 27, 2019
LAMA21Jun 9, 2021
LDB31Apr 16, 2020
LMAN11Nov 29, 2019
LMNA1Apr 22, 2020
LNPK1Apr 17, 2020
LOC1005055491Nov 29, 2019
LOC1066279811Nov 27, 2019
LRAT1May 3, 2020
LRP51Jan 8, 2020
LYST1Jun 9, 2021
MAP3K71Jun 9, 2021
MC1R1Mar 8, 2021
MED131Sep 15, 2020
MEGF101Jun 9, 2021
MIP1Mar 31, 2020
MOCOS1Apr 18, 2020
MOCS11Jun 9, 2021
MYO15A1Nov 13, 2019
MYOC1Jun 9, 2021
NCR12Apr 9, 2020
NDUFB31Jan 8, 2020
NLRP72Apr 9, 2020
NOTCH31Jun 9, 2021
NUP1551Apr 22, 2020
OCA21Mar 18, 2020
OTOF1Sep 15, 2020
PDHA11Apr 17, 2020
PIGO1Nov 21, 2019
PIK3CA1Apr 16, 2020
PLAA1Nov 13, 2019
POLA11Jun 9, 2021
PROC1Jan 8, 2020
RARS11Sep 15, 2020
SCN1A3Sep 15, 2020
SCN2A1Jun 9, 2021
SCN5A1Jan 22, 2021
SCN8A1Apr 22, 2020
SERPINC11Nov 26, 2019
SERPING11Nov 27, 2019
SETX1Feb 14, 2020
SGCG1Jun 9, 2021
SGPL11Jun 9, 2021
SGSH1Nov 29, 2019
SH3TC22Mar 19, 2020
SIX61May 6, 2020
SLC16A21Nov 29, 2019
SLC26A111Nov 29, 2019
SPTB1Dec 4, 2019
SRD5A21Apr 3, 2020
TBX181Mar 16, 2021
TCIRG12Sep 16, 2020
TRAPPC21Jan 8, 2020
TRPM62Jun 9, 2021
TSC11Jan 21, 2021
TSPOAP11Jun 9, 2021
TTN2Jun 9, 2021
TTN-AS12Jun 9, 2021
TWNK1Nov 13, 2019
TYK22Dec 30, 2019
UNC13D1Apr 18, 2020
UROS1Nov 29, 2019
VPS13A1Mar 16, 2020

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Apr 3, 2020
Abnormality of finger1Apr 22, 2020
Abnormality of the skeletal system1Sep 16, 2020
Adrenoleukodystrophy1Jan 21, 2021
Alagille syndrome 11Mar 31, 2020
Allan-Herndon-Dudley syndrome1Nov 29, 2019
Antithrombin III deficiency1Nov 26, 2019
Anxiety1Feb 14, 2020
Atrial fibrillation, familial, 151Apr 22, 2020
Autistic behavior1Sep 15, 2020
Autosomal recessive cutis laxa type IA1Jan 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B2Jul 21, 2020
Autosomal recessive osteopetrosis 12Sep 16, 2020
Bartter syndrome, type 2, antenatal1Nov 13, 2019
Brachycephaly1Jan 8, 2020
Brugada syndrome 11Jan 22, 2021
CARASIL syndrome1Apr 16, 2020
CHARGE association1Nov 26, 2019
Cardiospondylocarpofacial syndrome1Jun 9, 2021
Cerebellar atrophy2Jun 9, 2021
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11Jun 9, 2021
Cerebrooculofacioskeletal syndrome 11Apr 3, 2020
Cholestasis, progressive familial intrahepatic 11Nov 29, 2019
Choreoacanthocytosis1Mar 16, 2020
Chédiak-Higashi syndrome1Jun 9, 2021
Ciliary dyskinesia, primary, 51Apr 16, 2020
Cockayne syndrome B1Apr 3, 2020
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1May 6, 2020
Combined deficiency of factor V and factor VIII, 11Nov 29, 2019
Congenital cataract2Mar 31, 2020
Congenital erythropoietic porphyria1Nov 29, 2019
Congenital nystagmus1Mar 18, 2020
Cystic fibrosis1Jun 9, 2021
DE SANCTIS-CACCHIONE SYNDROME1Apr 3, 2020
Deafness, autosomal recessive 31Nov 13, 2019
Deafness, autosomal recessive 891Nov 22, 2019
Deafness, autosomal recessive 91Sep 15, 2020
Death in childhood1Jan 8, 2020
Developmental regression3Apr 22, 2020
Diaphyseal dysplasia1Jan 8, 2020
Diaphyseal sclerosis1Jan 8, 2020
Diarrhea1Mar 18, 2020
Diarrhea 62Apr 17, 2020
Dilated cardiomyopathy 1G2Jun 9, 2021
Duchenne muscular dystrophy1Jan 7, 2020
Early infantile epileptic encephalopathy 111Jun 9, 2021
Elevated alkaline phosphatase1Jan 8, 2020
Epidermolysis bullosa junctionalis with pyloric atresia1Jun 9, 2021
Epidermolysis bullosa pruriginosa2Jan 16, 2020
Epileptic encephalopathy, early infantile, 232Jun 9, 2021
Epileptic encephalopathy, early infantile, 421Jan 21, 2021
Factor V deficiency1Nov 29, 2019
Failure to thrive1Sep 16, 2020
Familial hemophagocytic lymphohistiocytosis 31Apr 18, 2020
Familial hypertrophic cardiomyopathy 92Jun 9, 2021
Febrile seizures1Mar 18, 2020
Focal clonic seizures2Apr 22, 2020
Frontometaphyseal dysplasia 21Jun 9, 2021
GNE myopathy1Feb 17, 2020
Gaucher disease type 3C1Nov 27, 2019
Gaucher disease type I1Nov 27, 2019
Gaucher disease type II1Nov 27, 2019
Gaucher disease type III1Nov 27, 2019
Gaucher disease, perinatal lethal1Nov 27, 2019
Generalized epilepsy with febrile seizures plus, type 23Sep 15, 2020
Glaucoma 1, open angle, A1Jun 9, 2021
Global developmental delay3Nov 27, 2019
Hepatocellular carcinoma2Jun 9, 2021
Hereditary angioedema type 11Nov 27, 2019
Hereditary diffuse leukoencephalopathy with spheroids1Sep 16, 2020
Hereditary factor VIII deficiency disease1Nov 29, 2019
Hereditary motor and sensory neuropathy2Mar 19, 2020
Hermansky-Pudlak syndrome 12Nov 29, 2019
Hirschsprung disease3Apr 16, 2020
Hydatidiform mole, recurrent, 12Apr 9, 2020
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive2May 6, 2020
Hyperinsulinemic hypoglycemia, familial, 13Sep 15, 2020
Hyperinsulinemic hypoglycemia, familial, 21Nov 13, 2019
Hyperphosphatasia with mental retardation syndrome 21Nov 21, 2019
Hypokalemia1Nov 27, 2019
Hypomagnesemia1Nov 27, 2019
Hypomagnesemia 1, intestinal2Jun 9, 2021
Hypoplastic acetabulae1Jan 8, 2020
Hypospadias, penile1Sep 16, 2020
Hypothyroidism1Feb 14, 2020
Immunodeficiency2Dec 30, 2019
Infantile onset spinocerebellar ataxia1Nov 13, 2019
Intellectual disability3Jun 9, 2021
Intrahepatic cholestasis with episodic jaundice1Nov 29, 2019
Junctional epidermolysis bullosa, non-Herlitz type1Jun 9, 2021
Juvenile nephropathic cystinosis1Nov 28, 2019
Juvenile-onset progressive generalized dystonia1Jun 9, 2021
Kidney damage1Jan 8, 2020
Kleefstra syndrome 21Nov 27, 2019
Leukodystrophy1Nov 22, 2019
Leukodystrophy, hypomyelinating, 152Dec 30, 2019
Leukodystrophy, hypomyelinating, 91Sep 15, 2020
Limb-girdle muscular dystrophy, type 1E1Mar 16, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Jun 9, 2021
Lower limb muscle weakness1Nov 27, 2019
Macrocephalus1Nov 27, 2019
Meconium ileus2Apr 17, 2020
Merosin deficient congenital muscular dystrophy1Jun 9, 2021
Metabolic acidosis2Mar 19, 2020
Microcornea1Mar 31, 2020
Micropenis1Sep 16, 2020
Microphthalmia1Mar 31, 2020
Miyoshi muscular dystrophy 12Jul 21, 2020
Molybdenum cofactor deficiency, complementation group A1Jun 9, 2021
Motor delay, mild1Mar 18, 2020
Mucopolysaccharidosis, MPS-III-A1Nov 29, 2019
Multiple fibrofolliculomas1Jun 9, 2021
Myasthenia, limb-girdle, familial1Feb 17, 2020
Myopathy2Jan 8, 2020
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1Jun 9, 2021
Myopathy, centronuclear, 11Nov 27, 2019
Myopathy, distal, with anterior tibial onset2Jul 21, 2020
Myopathy, myofibrillar, 9, with early respiratory failure1Jun 9, 2021
Nephropathic cystinosis1Nov 28, 2019
Nephrotic syndrome type 141Jun 9, 2021
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum1Apr 17, 2020
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Nov 13, 2019
Nystagmus1Mar 31, 2020
Ocular cystinosis1Nov 28, 2019
Oculocutaneous albinism1Mar 18, 2020
Osteopenia1Jan 8, 2020
Perrault syndrome 51Nov 13, 2019
Pigmentary disorder, reticulate, with systemic manifestations, X-linked1Jun 9, 2021
Polyarticular arthritis1Feb 14, 2020
Polycystic kidney disease1Apr 16, 2020
Pretibial epidermolysis bullosa2Jan 16, 2020
Primary dilated cardiomyopathy1Apr 16, 2020
Primary hyperoxaluria1Apr 18, 2020
Pyruvate dehydrogenase E1-alpha deficiency1Apr 17, 2020
Recessive dystrophic epidermolysis bullosa2Jan 16, 2020
Recurrent skin infections2Dec 30, 2019
Relative macrocephaly2Apr 22, 2020
Renal tubular acidosis2Mar 19, 2020
Respiratory tract infection1Mar 18, 2020
Rhabdomyolysis1Jan 8, 2020
Rickets2Mar 19, 2020
Rod-cone dystrophy2May 3, 2020
Seizure disorder1Mar 16, 2020
Seizures1Jan 8, 2020
Severe autosomal recessive muscular dystrophy of childhood - North African type1Jun 9, 2021
Severe global developmental delay1Sep 16, 2020
Severe muscular hypotonia2Apr 22, 2020
Severe myoclonic epilepsy in infancy3Sep 15, 2020
Sifrim-Hitz-Weiss syndrome1Jun 9, 2021
Sjögren-Larsson syndrome1Feb 17, 2020
Skin/hair/eye pigmentation, variation in, 21Mar 8, 2021
Spherocytosis type 21Dec 4, 2019
Spinal muscular atrophy1Nov 29, 2019
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Feb 14, 2020
Spondyloepiphyseal dysplasia tarda1Jan 8, 2020
Stromme syndrome1Mar 18, 2020
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1Jan 8, 2020
Tuberous sclerosis 11Jan 21, 2021
Vitamin D deficiency1Jan 8, 2020
facial dysmorphism1Mar 16, 2020
not provided1Mar 16, 2021
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