Medical Genetics Laboratory (CHRU Nancy)

General information

Medical Genetics Laboratory
CHRU Nancy
rue du Morvan
Vandoeuvre-les-Nancy
Lorraine
France - 54100

Organization ID: 507803

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 90

Gene

GeneSubmissionsLast Updated
CASK1Mar 18, 2021
CREBBP1Mar 18, 2021
DLGAP11Feb 8, 2021
DNM31Feb 8, 2021
GPC31Feb 8, 2021
MED13L1Mar 18, 2021

Condition

NameSubmissionsLast Updated
3-4 finger syndactyly1Mar 18, 2021
Abnormal facial shape2Mar 18, 2021
Abnormality of brain morphology1Mar 18, 2021
Abnormality of optic chiasm morphology1Feb 8, 2021
Abnormality of the anus1Feb 8, 2021
Abnormality of the duodenum1Feb 8, 2021
Abnormality of the fetal cardiovascular system2Feb 8, 2021
Abnormality of the head2Feb 8, 2021
Abnormality of the kidney1Mar 18, 2021
Aicardi syndrome1Feb 8, 2021
Aplasia of the vagina1Feb 8, 2021
Atrioventricular septal defect1Feb 8, 2021
Autism with high cognitive abilities3Mar 18, 2021
Autistic disorder of childhood onset8Mar 18, 2021
Behavioral abnormality6Mar 18, 2021
Broad thumb1Mar 18, 2021
Cardiomyopathy1Mar 18, 2021
Cerebellar vermis hypoplasia1Mar 18, 2021
Cleft lip2Mar 18, 2021
Coarctation of aorta1Mar 18, 2021
Corpus callosum, agenesis of5Mar 18, 2021
Cryptorchidism2Mar 18, 2021
Delayed speech and language development14Mar 18, 2021
Developmental regression1Mar 18, 2021
Ectopic scrotum1Mar 18, 2021
Epileptic encephalopathy2Feb 8, 2021
Epileptic spasms1Mar 18, 2021
Facial asymmetry1Feb 8, 2021
Functional abnormality of the bladder1Feb 8, 2021
Generalized hypotonia3Mar 18, 2021
Global developmental delay23Mar 18, 2021
Hand polydactyly1Mar 18, 2021
Hearing impairment1Feb 8, 2021
Hydronephrosis1Feb 8, 2021
Hypertrichosis1Mar 18, 2021
Hypospadias, penile1Feb 8, 2021
Intellectual disability2Feb 8, 2021
Intracranial hemorrhage1Mar 18, 2021
Intrauterine growth retardation4Mar 18, 2021
Lissencephaly1Feb 8, 2021
Lower limb asymmetry1Feb 8, 2021
Mayer-Rokitansky-Kuster-Hauser syndrome1Feb 8, 2021
Microcephaly7Mar 18, 2021
Motor delay4Mar 18, 2021
Neurodevelopmental delay8Mar 18, 2021
Non-syndromic syndactyly1Mar 18, 2021
Obesity1Mar 18, 2021
Overgrowth1Feb 8, 2021
Overweight1Feb 8, 2021
Poland anomaly1Feb 8, 2021
Polyhydramnios1Feb 8, 2021
Poor motor coordination1Mar 18, 2021
Positional foot deformity2Mar 18, 2021
Potocki-Lupski syndrome1Mar 18, 2021
Pseudohypoaldosteronism1Feb 8, 2021
Renal hypoplasia1Mar 18, 2021
Rett syndrome1Feb 8, 2021
Robin sequence1Mar 18, 2021
Scoliosis1Mar 18, 2021
Seizures2Mar 18, 2021
Severe intrauterine growth retardation1Feb 8, 2021
Severe sensorineural hearing impairment1Feb 8, 2021
Severe short stature1Mar 18, 2021
Short nose1Feb 8, 2021
Short stature3Mar 18, 2021
Smith-Magenis syndrome1Mar 18, 2021
Strabismus1Mar 18, 2021
Transverse facial cleft3Mar 18, 2021
Trigonocephaly1Mar 18, 2021
Unilateral renal agenesis1Feb 8, 2021
Upper limb asymmetry1Feb 8, 2021
Williams syndrome1Mar 18, 2021
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