ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.222A>T (p.Lys74Asn)

gnomAD frequency: 0.00029  dbSNP: rs114157340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001594046 SCV001825329 uncertain significance not provided 2024-05-03 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001594046 SCV002402530 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001594046 SCV005410479 uncertain significance not provided 2024-04-19 criteria provided, single submitter clinical testing BP4

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