ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1647G>A (p.Thr549=)

gnomAD frequency: 0.00004  dbSNP: rs201728933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697468 SCV000719236 likely benign not provided 2020-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000935690 SCV001081442 likely benign Combined oxidative phosphorylation defect type 27 2024-01-22 criteria provided, single submitter clinical testing

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