ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.99G>A (p.Thr33=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002640547 SCV003519604 likely benign Carnitine acylcarnitine translocase deficiency 2023-06-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953958 SCV004771306 likely benign SLC25A20-related disorder 2023-12-10 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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