ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.955C>T (p.Leu319=)

dbSNP: rs772822506
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 RCV001955610 SCV002223338 likely benign Combined oxidative phosphorylation defect type 14 2024-01-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003490963 SCV004234750 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing

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