ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1503G>A (p.Ala501=)

gnomAD frequency: 0.00007  dbSNP: rs753425826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440951 SCV000528204 likely benign not specified 2017-08-10 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 RCV000950524 SCV001096838 likely benign Combined oxidative phosphorylation defect type 27 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000950524 SCV002797223 likely benign Combined oxidative phosphorylation defect type 27 2022-04-04 criteria provided, single submitter clinical testing

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