ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.306A>G (p.Lys102=)

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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 RCV002943148 SCV003276442 likely benign Carnitine acylcarnitine translocase deficiency 2022-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992692 SCV004811290 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SLC25A20: PM2:Supporting, BP4, BP7

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