ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)

gnomAD frequency: 0.00024  dbSNP: rs138094550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000361623 SCV000340624 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087364 SCV001071661 likely benign Citrin deficiency 2024-11-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949884 SCV004760421 likely benign SLC25A13-related disorder 2022-06-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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