ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1996G>A (p.Val666Ile)

dbSNP: rs200756304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550655 SCV001771018 uncertain significance not provided 2022-11-03 criteria provided, single submitter clinical testing In silico analysis supports 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 RCV001550655 SCV002943152 likely benign not provided 2024-05-16 criteria provided, single submitter clinical testing

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