ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.608+12A>G

gnomAD frequency: 0.00002  dbSNP: rs773824427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842631 SCV000984661 likely benign not provided 2018-05-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002536156 SCV003022346 likely benign Carnitine acylcarnitine translocase deficiency 2023-12-10 criteria provided, single submitter clinical testing

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