ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)

gnomAD frequency: 0.00020  dbSNP: rs141970893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001369821 SCV001566272 likely benign 3-methylglutaconic aciduria, type VIIB 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001561420 SCV001784023 uncertain significance not provided 2025-01-17 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001561420 SCV005412406 uncertain significance not provided 2023-11-07 criteria provided, single submitter clinical testing BP4

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