ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1800C>T (p.Tyr600=)

gnomAD frequency: 0.00001  dbSNP: rs765919667
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730744 SCV000858507 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060996 SCV002451693 likely benign Citrin deficiency 2023-10-05 criteria provided, single submitter clinical testing

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