ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.492G>C (p.Gly164=)

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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 RCV003626027 SCV004461128 likely benign Carnitine acylcarnitine translocase deficiency 2023-12-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711963 SCV005261368 likely benign not provided criteria provided, single submitter not provided

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