ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam RCV002509767 SCV002546358 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency 2022-06-30 criteria provided, single submitter clinical testing The identified variant was described in our publication as IVS16ins3kb (p.A584fs*585), which is located at intron 16 in the SLC25A13 gene and defined as an insertion mutation. There were 19 patients carrying this variant.
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital RCV002509767 SCV004800854 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency no assertion criteria provided clinical testing PVS1+PS4+PM3+PP4

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