Suma Genomics

General information

Suma Genomics

Manipal
Karnataka
India - 576104
http://sumagenomics.com/
Organization ID: 508066

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 93

Gene

GeneSubmissionsLast Updated
ABCC91Sep 4, 2021
ACER31Sep 7, 2021
ADNP1Sep 7, 2021
AMT2Sep 4, 2021
ANAPC151May 29, 2021
ANK11Sep 4, 2021
APOB1Sep 7, 2021
ARSA2Sep 7, 2021
ASIC4-AS12Sep 4, 2021
ATP7B2Sep 7, 2021
ATRIP1Sep 4, 2021
ATRIP-TREX11Sep 4, 2021
BCL11B1May 29, 2021
BMP11Sep 7, 2021
BPTF1Sep 4, 2021
BTD1Sep 7, 2021
BTK1Sep 4, 2021
C12orf603Sep 4, 2021
CA5A1Sep 7, 2021
CACNA1G1Sep 4, 2021
CASK1Sep 7, 2021
CASQ21Sep 4, 2021
CFTR3Sep 4, 2021
CFTR-AS11Sep 4, 2021
CNKSR21Sep 4, 2021
CNTNAP11Sep 4, 2021
COL11A11Sep 7, 2021
COL1A11Sep 4, 2021
CYP27B11Sep 4, 2021
DEGS11Sep 7, 2021
DMD1Sep 4, 2021
DNM1L1Sep 4, 2021
EBF31Sep 4, 2021
EDAR1May 29, 2021
EP3001Sep 7, 2021
ESR11Sep 4, 2021
FBN13Sep 4, 2021
FBXL41May 29, 2021
FIG41Sep 7, 2021
FKBP101Sep 4, 2021
FLG1Sep 4, 2021
GAA2Sep 4, 2021
GALNS1Sep 7, 2021
GATB2May 29, 2021
GDAP11Sep 4, 2021
GFM21Sep 7, 2021
GMPPA1Sep 4, 2021
GUCY2C3Sep 4, 2021
IQSEC21May 29, 2021
KLHL71Sep 4, 2021
KMT2A1Sep 7, 2021
LAMA22Sep 4, 2021
LPL1Sep 7, 2021
LRTOMT1May 29, 2021
MATN31Sep 4, 2021
MECP23Sep 7, 2021
METTL51Sep 7, 2021
MMUT1Sep 4, 2021
MOCS22Sep 7, 2021
MPL1Sep 4, 2021
MYBPC11Sep 4, 2021
OBSL12Sep 7, 2021
OSGEP2Sep 7, 2021
PDHA11Sep 4, 2021
PHF61Sep 4, 2021
PPT11Sep 7, 2021
RANBP21May 29, 2021
RET1Sep 7, 2021
SLC26A51Sep 7, 2021
SLC6A91Sep 4, 2021
SPEG1Sep 4, 2021
STXBP11Sep 4, 2021
SYNE11Sep 4, 2021
TBCD1Sep 4, 2021
TBL1XR11Sep 4, 2021
TCF41May 29, 2021
TDRD71Sep 4, 2021
TNFRSF13B1Sep 4, 2021
TNFRSF1A1May 29, 2021
TOMT1May 29, 2021
TREX11Sep 4, 2021
TTN3Sep 4, 2021
TTN-AS12Sep 4, 2021
TUBA1A1Sep 4, 2021
YARS21Sep 4, 2021

Condition

NameSubmissionsLast Updated
Aicardi Goutieres syndrome 11Sep 4, 2021
Alacrima, achalasia, and mental retardation syndrome1Sep 4, 2021
Alkaline ceramidase 3 deficiency1Sep 7, 2021
Arthrogryposis multiplex congenita 3, myogenic type1Sep 4, 2021
Biotinidase deficiency1Sep 7, 2021
Borjeson-Forssman-Lehmann syndrome1Sep 4, 2021
Carbonic anhydrase VA deficiency, hyperammonemia due to1Sep 7, 2021
Cataract, autosomal recessive congenital 41Sep 4, 2021
Charcot-Marie-Tooth disease axonal type 2K1Sep 4, 2021
Combined oxidative phosphorylation deficiency 391Sep 7, 2021
Combined oxidative phosphorylation deficiency 412May 29, 2021
Common variable immunodeficiency 21Sep 4, 2021
Congenital amegakaryocytic thrombocytopenia1Sep 4, 2021
Congenital hypomyelinating neuropathy 31Sep 4, 2021
Cystic fibrosis3Sep 4, 2021
Deafness, autosomal recessive 611Sep 7, 2021
Deafness, autosomal recessive 631May 29, 2021
Dilated cardiomyopathy 1G1Sep 4, 2021
Distal arthrogryposis type 1B1Sep 4, 2021
Duchenne muscular dystrophy1Sep 4, 2021
Early infantile epileptic encephalopathy 41Sep 4, 2021
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal1May 29, 2021
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Sep 4, 2021
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum1Sep 4, 2021
Galloway-Mowat syndrome 32Sep 7, 2021
Glycine encephalopathy with normal serum glycine1Sep 4, 2021
Glycogen storage disease, type II2Sep 4, 2021
Helsmoortel-Van der Aa Syndrome1Sep 7, 2021
Hyperlipoproteinemia, type I1Sep 7, 2021
Hypertrichotic osteochondrodysplasia Cantu type1Sep 4, 2021
Hypobetalipoproteinemia, familial, 11Sep 7, 2021
Hypotonia, ataxia, and delayed development syndrome1Sep 4, 2021
Ichthyosis vulgaris1Sep 4, 2021
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1May 29, 2021
Intellectual developmental disorder, autosomal recessive 721Sep 7, 2021
Intellectual disability, X-linked, syndromic, Houge type1Sep 4, 2021
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency3Sep 4, 2021
Leukodystrophy, hypomyelinating, 181Sep 7, 2021
Lissencephaly 31Sep 4, 2021
Marfan syndrome3Sep 4, 2021
Menke-Hennekam syndrome 21Sep 7, 2021
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Sep 7, 2021
Mental retardation, X-linked 11May 29, 2021
Mental retardation, X-linked, syndromic 131Sep 4, 2021
Mental retardation, autosomal dominant 411Sep 4, 2021
Merosin deficient congenital muscular dystrophy2Sep 4, 2021
Metachromatic leukodystrophy2Sep 7, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1Sep 4, 2021
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1May 29, 2021
Molybdenum cofactor deficiency, complementation group B2Sep 7, 2021
Mucopolysaccharidosis, MPS-IV-A1Sep 7, 2021
Multiple endocrine neoplasia, type 2b1Sep 7, 2021
Multiple epiphyseal dysplasia type 51Sep 4, 2021
Myopathy, centronuclear, 51Sep 4, 2021
Myopathy, early-onset, with fatal cardiomyopathy2May 29, 2021
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Sep 4, 2021
Neuronal ceroid lipofuscinosis 11Sep 7, 2021
Non-ketotic hyperglycinemia2Sep 4, 2021
Osteogenesis imperfecta type I1Sep 4, 2021
Osteogenesis imperfecta, type XI1Sep 4, 2021
Osteogenesis imperfecta, type xiii1Sep 7, 2021
PERCHING syndrome1Sep 4, 2021
Pitt-Hopkins syndrome1May 29, 2021
Pyruvate dehydrogenase E1-alpha deficiency1Sep 4, 2021
Rett syndrome2Sep 7, 2021
Rubinstein-Taybi syndrome 21Sep 7, 2021
Spherocytosis type 11Sep 4, 2021
Spinocerebellar ataxia 421Sep 4, 2021
Stickler syndrome type 21Sep 7, 2021
TNF receptor-associated periodic fever syndrome (TRAPS)1May 29, 2021
Three M syndrome 22Sep 7, 2021
Ventricular tachycardia, catecholaminergic polymorphic, 21Sep 4, 2021
Vitamin D-dependent rickets type 1A1Sep 4, 2021
Wiedemann-Steiner syndrome1Sep 7, 2021
Wilson disease2Sep 7, 2021
X-linked agammaglobulinemia1Sep 4, 2021
Yunis-Varon syndrome1Sep 7, 2021
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