ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1608T>C (p.Ser536=)

dbSNP: rs768148130
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002200654 SCV002488744 likely benign Citrin deficiency 2020-12-21 criteria provided, single submitter clinical testing

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