ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.720A>G (p.Ala240=)

gnomAD frequency: 0.00031  dbSNP: rs142417191
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428093 SCV000514649 likely benign not specified 2016-03-25 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 RCV000872053 SCV001013807 likely benign Carnitine acylcarnitine translocase deficiency 2024-01-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711044 SCV005261367 likely benign not provided criteria provided, single submitter not provided

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