ClinVar Miner

Submissions for variant NM_001397406.1(FDX2):c.201-8G>A

gnomAD frequency: 0.00056  dbSNP: rs201352690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581533 SCV001813230 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001581533 SCV002478269 benign not provided 2024-12-29 criteria provided, single submitter clinical testing

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