ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.[1956C>A;1962del]

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Total submissions: 1
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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 RCV002508346 SCV002546526 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency 2022-06-30 criteria provided, single submitter clinical testing

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