ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862194 SCV001002663 likely benign Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2024-01-24 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173136 SCV001336212 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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