ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=)

gnomAD frequency: 0.00002  dbSNP: rs765192701
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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) RCV000729283 SCV000856930 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067092 SCV002430342 likely benign Citrin deficiency 2024-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742609 SCV005344747 likely benign SLC25A13-related disorder 2024-05-29 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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