ClinVar Miner

Submissions for variant NM_002488.5(NDUFA2):c.102-11C>G

gnomAD frequency: 0.00051  dbSNP: rs201963018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720066 SCV000518928 uncertain significance not provided 2025-04-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001720066 SCV002437958 likely benign not provided 2024-02-28 criteria provided, single submitter clinical testing

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