ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1104A>G (p.Glu368=)

dbSNP: rs2116629184
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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 RCV002186075 SCV002484806 likely benign Citrin deficiency 2020-12-18 criteria provided, single submitter clinical testing

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