ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.288G>A (p.Gly96=)

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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 RCV003824245 SCV004629271 likely benign Carnitine acylcarnitine translocase deficiency 2023-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909173 SCV004720794 likely benign SLC25A20-related disorder 2019-06-27 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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