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Genetics Department (Polish Mother's Memorial Hospital Research Institute)

General information

Genetics Department
Polish Mother's Memorial Hospital Research Institute
Rzgowska 281/289
Lodz
United States - 93-338
https://www.iczmp.edu.pl/
Organization ID: 507063

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 124

Gene

GeneSubmissionsLast Updated
ANOS12Aug 27, 2019
ARFGEF1-DT1Mar 22, 2024
BRWD31Feb 22, 2024
CCDC1411Jun 13, 2019
CHD71Mar 9, 2020
CNTNAP22Mar 1, 2024
COL1A130Feb 21, 2023
COL1A215Feb 21, 2023
CPA61Mar 22, 2024
FGFR13Aug 27, 2019
FKBP101Apr 6, 2020
FOXP11Mar 1, 2024
GALC1Mar 22, 2024
HIRA1Mar 22, 2024
IL1RAPL11Feb 22, 2024
L1CAM3Apr 19, 2022
LDLR1Oct 16, 2021
LHB1Mar 9, 2020
LOC1268607971Jun 13, 2019
LOC1268625861Jul 12, 2019
LRP53Apr 6, 2020
MAST41Mar 22, 2024
MYT1L1Feb 22, 2024
NAALADL21Feb 15, 2024
NRXN12Feb 29, 2024
NSMF1Jun 13, 2019
P4HB1Apr 6, 2020
PCDH191Feb 22, 2024
POLR2F1Aug 27, 2019
PPARG1May 18, 2021
PROKR23Mar 9, 2020
SEMA7A2Jun 13, 2019
SERPINF12Apr 6, 2020
SOX101Aug 27, 2019
SRA11Jun 13, 2019
TACR31Mar 9, 2020
THRB1Mar 3, 2023
WNT11Apr 6, 2020

Condition

NameSubmissionsLast Updated
Autism spectrum disorder38Mar 6, 2024
Autosomal dominant osteopetrosis 11Apr 6, 2020
Bruck syndrome1Apr 6, 2020
Cole-Carpenter syndrome1Apr 6, 2020
Epilepsy syndrome8Mar 22, 2024
Hypercholesterolemia, familial, 11Oct 16, 2021
Hypogonadism with anosmia1Jun 13, 2019
Hypogonadotropic hypogonadism 1 with or without anosmia2Aug 27, 2019
Hypogonadotropic hypogonadism 11 with or without anosmia1Mar 9, 2020
Hypogonadotropic hypogonadism 2 with or without anosmia3Aug 27, 2019
Hypogonadotropic hypogonadism 3 with or without anosmia3Mar 9, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia1Mar 9, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia1Jun 13, 2019
Hypogonadotropic hypogonadism 9 with or without anosmia1Jun 13, 2019
Isolated lutropin deficiency1Mar 9, 2020
John Milton Hagen blood group system2Jun 13, 2019
Osteogenesis imperfecta48Feb 21, 2023
Osteoporosis with pseudoglioma2Apr 6, 2020
PPARG-related familial partial lipodystrophy1May 18, 2021
Phelan-McDermid syndrome2Mar 22, 2024
Thyroid hormone resistance, generalized, autosomal dominant1Mar 3, 2023
Waardenburg syndrome type 2E1Aug 27, 2019
X-linked hydrocephalus syndrome3Apr 19, 2022