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Diagnostics Division (CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS)

General information

Diagnostics Division
CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
Inner Ring Road, Uppal
HYDERABAD-500 039
Andhra Pradesh
India - 500039
http://www.cdfd.org.in/servicespages/diagnostics.html
Organization ID: 505641

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 203

Gene

GeneSubmissionsLast Updated
ABHD51Jan 24, 2019
ACE1Dec 19, 2016
ALDH18A11Feb 22, 2019
ALG11Jan 24, 2019
ALG31May 18, 2019
ALMS11Jan 5, 2016
ANTXR21Jun 27, 2016
AP4M11Jul 27, 2022
ARMC91Nov 11, 2017
ARSB1Apr 29, 2016
ATP1A22Jun 3, 2025
AVEN1Jul 27, 2022
BHLHA91Jun 27, 2016
BPNT21Jun 4, 2021
CASK1Jan 24, 2019
CDK81May 21, 2019
CLASP13May 21, 2019
CNTNAP11Jun 27, 2016
COL1A11Aug 23, 2022
COL4A31Jan 21, 2020
COL4A41Jan 21, 2020
COL6A21Jun 27, 2016
COL6A31Jul 30, 2015
COMP1Jul 27, 2022
CPAP1Jul 18, 2022
CRACR2A1Jul 22, 2020
CRELD11Feb 22, 2019
CRTAP1Feb 22, 2019
CSNK2A11Dec 18, 2024
CTSA1Jul 26, 2022
CYP26B11Jan 3, 2023
DAAM21Dec 17, 2024
DACT31Jan 24, 2019
DDR21Jun 3, 2025
DNAH11Jun 3, 2025
DYNC2H12Jul 27, 2022
ECEL11Jun 3, 2025
ENG1Feb 28, 2022
ENPP11May 18, 2019
EPG51Dec 19, 2016
ERI11Oct 15, 2018
ESCO21Jul 18, 2022
EYA31Jul 22, 2020
F81Jun 27, 2016
FANCD22Jun 3, 2025
FBN11Dec 19, 2016
FBN21Dec 19, 2016
FBXL42Jul 19, 2022
FGFR31Feb 22, 2019
FKTN1May 18, 2019
FOCAD1Jun 3, 2025
GBA11Mar 3, 2022
GJC21Jun 27, 2016
GMPPB1Jun 27, 2016
GNPTAB30Feb 20, 2020
GNPTG4Feb 20, 2020
GPC31Jun 27, 2016
GUSB1Jan 24, 2019
HERC11Aug 31, 2015
HSPG21Jun 27, 2016
KANSL12Jun 3, 2025
KLHL401Dec 24, 2018
LAMA21Jun 27, 2016
LOC1066279811Mar 3, 2022
LOC1073033381Jun 3, 2025
LOC1228890111Jul 30, 2015
LOC1299941261Apr 29, 2016
LOX1Dec 24, 2018
MFF-DT1Jan 21, 2020
MKS11Dec 24, 2018
MPDZ1Jun 3, 2025
MUSK1Jul 26, 2022
MYH31Jul 27, 2022
MYH81Jun 3, 2025
MYHAS1Jun 3, 2025
MYO18A1May 18, 2019
NBN1May 18, 2019
NEK12Jul 27, 2022
NIPBL1Jan 24, 2019
NOG1Dec 19, 2016
NPHP31Jun 3, 2025
NPHP3-ACAD111Jun 3, 2025
OCLN1Oct 26, 2015
PAX11Nov 11, 2017
PCDH121Jan 24, 2019
PCDH191Jan 24, 2019
PCNT1Dec 17, 2024
PDE10A1Nov 11, 2017
PEX11May 18, 2019
PHGDH1Jul 26, 2022
PKHD11Mar 3, 2022
PLD11Jul 18, 2022
PLOD21Jul 18, 2022
POMT13Jun 3, 2025
PPIB1Jun 27, 2016
PPT11Jan 24, 2019
PTPN111Jul 28, 2022
RET2Jun 3, 2019
RNF141Jan 24, 2019
RNF171Jul 18, 2022
RNU4ATAC3May 21, 2019
ROR22Jul 26, 2022
RPGRIP11Jun 27, 2016
RPGRIP1L1Jul 26, 2022
RXYLT11May 18, 2019
RYR12Feb 22, 2019
RYR32Jul 27, 2022
RYR3-DT1Jul 27, 2022
SERPINA111May 21, 2019
SGCB1Dec 17, 2024
SGSH1Jan 24, 2019
SLC25A151Jan 24, 2019
SLC26A21Mar 3, 2022
SLC6A51Jul 26, 2022
SLCO2A13Jun 12, 2021
SMPD141Jun 14, 2021
SNX221Jun 27, 2016
SRFBP11Dec 24, 2018
SYNE11Jul 30, 2015
TMCO11Jul 19, 2022
TOGARAM11Jun 25, 2025
TSC11Dec 19, 2016
TTC81Jul 26, 2022
TTN1Jun 27, 2016
TTN-AS11Jun 27, 2016
UCHL11Nov 11, 2017
WDR621Mar 3, 2020
WNT10B1Jul 26, 2022
ZFPM22Feb 22, 2019
ZFPM2-AS11Feb 22, 2019
ZNF7781Jan 24, 2019

Condition

NameSubmissionsLast Updated
ALDH18A1-related de Barsy syndrome1Feb 22, 2019
ALG1-congenital disorder of glycosylation1Jan 24, 2019
ALG3-congenital disorder of glycosylation1May 18, 2019
Abnormal facial shape6Jun 3, 2019
Abnormal finger morphology1Oct 15, 2018
Achondrogenesis, type IB1Mar 3, 2022
Alstrom syndrome1Jan 5, 2016
Arterial calcification, generalized, of infancy, 11May 18, 2019
Arthrogryposis multiplex congenita2Jul 27, 2022
Asphyxiating thoracic dystrophy 32Jul 27, 2022
Atrioventricular septal defect, susceptibility to, 21Feb 22, 2019
Autosomal recessive Robinow syndrome2Jul 26, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E1Dec 17, 2024
Bardet-Biedl syndrome 81Jul 26, 2022
Bethlem myopathy 1A1Jul 30, 2015
Bruck syndrome 21Jul 18, 2022
Camptosynpolydactyly, complex1Jun 27, 2016
Cardiac valvular defect, developmental1Jul 18, 2022
Central core myopathy2Feb 22, 2019
Cerebellar ataxia1Jan 24, 2019
Chondrodysplasia with joint dislocations, gPAPP type1Jun 4, 2021
Ciliary dyskinesia, primary, 371Jun 3, 2025
Coarse facial features1Oct 15, 2018
Combined deficiency of sialidase AND beta galactosidase1Jul 26, 2022
Common atrium1May 21, 2019
Congenital contractural arachnodactyly2Dec 19, 2016
Congenital diaphragmatic hernia1May 21, 2019
Cornelia de Lange syndrome 11Jan 24, 2019
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11Jul 19, 2022
Developmental and epileptic encephalopathy, 91Jan 24, 2019
Diaphragmatic hernia 32Feb 22, 2019
Distal arthrogryposis type 5D1Jun 3, 2025
Dystonic disorder1Jan 24, 2019
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1Nov 11, 2017
Ebstein anomaly1May 21, 2019
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Jul 30, 2015
Emphysema1Dec 24, 2018
Exudative retinopathy1Jan 24, 2019
FG syndrome 41Jan 24, 2019
Fanconi anemia complementation group D22Jun 3, 2025
Fetal akinesia deformation sequence 11Jul 26, 2022
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies2Jun 3, 2025
GNPTG-mucolipidosis4Feb 20, 2020
Gaucher disease perinatal lethal1Mar 3, 2022
Global developmental delay2Jan 24, 2019
Heart, malformation of1May 21, 2019
Hecht syndrome1Jun 3, 2025
Hereditary factor VIII deficiency disease1Jun 27, 2016
Hereditary spastic paraplegia 501Jul 27, 2022
Hirschsprung disease, susceptibility to, 11Mar 8, 2019
Hyaline fibromatosis syndrome1Jun 27, 2016
Hydrocephalus, nonsyndromic, autosomal recessive 21Jun 3, 2025
Hydrops fetalis2Mar 3, 2022
Hyperekplexia 31Jul 26, 2022
Hypertrophic osteoarthropathy, primary, autosomal recessive, 23Jun 12, 2021
Hypomyelinating leukodystrophy 21Jun 27, 2016
Increased number of skin folds1Dec 24, 2018
Infantile-onset generalized dyskinesia with orofacial involvement1Nov 11, 2017
Intellectual disability2Jan 24, 2019
Interphalangeal joint contracture of finger1Dec 24, 2018
Joubert syndrome 301Nov 11, 2017
Joubert syndrome 371Jun 25, 2025
Koolen-de Vries syndrome2Jun 3, 2025
LEOPARD syndrome 11Jul 28, 2022
Leber congenital amaurosis 62Dec 24, 2018
Lethal congenital contracture syndrome 71Jun 27, 2016
Lethal occipital encephalocele-skeletal dysplasia syndrome1Jan 3, 2023
Liver disease, severe congenital1Jun 3, 2025
Marfan syndrome2Dec 19, 2016
Meckel syndrome, type 11Dec 24, 2018
Meckel syndrome, type 51Jul 26, 2022
Megacolon1Jun 3, 2019
Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability1Aug 31, 2015
Merosin deficient congenital muscular dystrophy1Jun 27, 2016
Microcephalic osteodysplastic primordial dwarfism type II1Dec 17, 2024
Microcephaly1Jan 24, 2019
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1Mar 3, 2020
Microcephaly, normal intelligence and immunodeficiency1May 18, 2019
Mitochondrial DNA depletion syndrome 132Jul 19, 2022
Mucolipidosis type II30Feb 20, 2020
Mucopolysaccharidosis type 61Apr 29, 2016
Mucopolysaccharidosis type 71Jan 24, 2019
Mucopolysaccharidosis, MPS-III-A1Jan 24, 2019
Multiple epiphyseal dysplasia type 11Jul 27, 2022
Multiple joint contractures1May 18, 2019
Muscular dystrophy1Jun 27, 2016
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41May 18, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13Jun 3, 2025
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101May 18, 2019
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141Jun 27, 2016
NPHP3-related Meckel-like syndrome1Jun 3, 2025
Nemaline myopathy 81Dec 24, 2018
Nephrotic syndrome, type 241Dec 17, 2024
Neu-Laxova syndrome 11Jul 26, 2022
Neuronal ceroid lipofuscinosis 11Jan 24, 2019
Niemann-Pick disease, type A34Jun 14, 2021
Niemann-Pick disease, type B13Jun 14, 2021
Obesity1Jan 24, 2019
Okur-Chung neurodevelopmental syndrome1Dec 18, 2024
Osteodysplastic primordial dwarfism, type 13May 21, 2019
Osteogenesis imperfecta1Jun 27, 2016
Osteogenesis imperfecta type 71Feb 22, 2019
Osteogenesis imperfecta, perinatal lethal1Aug 23, 2022
Otofaciocervical syndrome 21Nov 11, 2017
Pericardial effusion1May 21, 2019
Peroxisome biogenesis disorder 1A (Zellweger)1May 18, 2019
Pleural effusion2May 21, 2019
Polycystic kidney disease 41Mar 3, 2022
Progressive spastic paraparesis1Jan 24, 2019
Pseudo-Hurler polydystrophy30Feb 20, 2020
Pseudo-TORCH syndrome 11Oct 26, 2015
Renal tubular dysgenesis1Dec 19, 2016
Roberts-SC phocomelia syndrome1Jul 18, 2022
Schwartz-Jampel syndrome1Jun 27, 2016
Seckel syndrome 41Jul 18, 2022
Seizure1Jan 24, 2019
Short stature1Jul 22, 2020
Short-rib thoracic dysplasia 6 with or without polydactyly2Jul 27, 2022
Simpson-Golabi-Behmel syndrome type 11Jun 27, 2016
Split hand-foot malformation 61Jul 26, 2022
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1Jun 3, 2025
Steroid-resistant nephrotic syndrome2Jan 21, 2020
Stillbirth1May 21, 2019
Syndromic X-linked intellectual disability Najm type1Jan 24, 2019
Tarsal-carpal coalition syndrome1Dec 19, 2016
Telangiectasia, hereditary hemorrhagic, type 11Feb 28, 2022
Thanatophoric dysplasia type 11Feb 22, 2019
Triglyceride storage disease with ichthyosis1Jan 24, 2019
Tuberous sclerosis 11Dec 19, 2016
Ullrich congenital muscular dystrophy 1A2Jun 27, 2016
Unilateral renal agenesis1Oct 15, 2018
Ventriculomegaly1May 21, 2019
Vici syndrome1Dec 19, 2016