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Shanghai First Maternity and Infant Hospital (Tongji University), SFMIH

General information

Shanghai First Maternity and Infant Hospital, SFMIH
Tongji University
2699 West Gaoke Road
Shanghai
China - 201204
https://www.51mch.com/english
Organization ID: 505826

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 30

Gene

GeneSubmissionsLast Updated
FGFR31Jul 25, 2016
PIGA1Nov 2, 2021
PKD11Nov 9, 2022
PKD1-AS11Nov 9, 2022
PLP11Mar 4, 2020
RAB9B1Mar 4, 2020

Condition

NameSubmissionsLast Updated
22q11.2 central deletion syndrome5Jul 3, 2019
22q11.2 central duplication syndrome2Jul 3, 2019
22q11.2 distal duplication syndrome2Jul 3, 2019
Axenfeld-Rieger syndrome type 31Apr 5, 2022
Cat eye syndrome1Apr 5, 2022
Chromosome 22q11.2 microduplication syndrome4Jul 3, 2019
DiGeorge syndrome5Jul 3, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 21Nov 2, 2021
Pelizaeus-Merzbacher disease1Mar 4, 2020
Polycystic kidney disease, adult type1Nov 9, 2022
Thanatophoric dysplasia type 11Jul 25, 2016
Velocardiofacial syndrome5Jul 3, 2019
not provided6Apr 5, 2022