ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.688G>A (p.Ala230Thr)

gnomAD frequency: 0.00001  dbSNP: rs772065497
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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 RCV001368649 SCV001565052 uncertain significance Combined oxidative phosphorylation defect type 27 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001368649 SCV002812094 uncertain significance Combined oxidative phosphorylation defect type 27 2021-07-02 criteria provided, single submitter clinical testing

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