ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.869T>C (p.Ile290Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466384 SCV004209355 likely pathogenic Citrullinemia, type II, adult-onset 2024-03-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047616 SCV005671934 likely pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency; Citrullinemia, type II, adult-onset 2024-05-20 criteria provided, single submitter clinical testing

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