ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1167C>T (p.Ser389=)

gnomAD frequency: 0.00006  dbSNP: rs41275134
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000888291 SCV001031919 likely benign Combined oxidative phosphorylation defect type 27 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396531 SCV004135663 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CARS2: BP4, BP7

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