ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1724G>A (p.Arg575His) (rs564375950)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622514 SCV000741899 uncertain significance Inborn genetic diseases 2016-11-21 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000857109 SCV000999684 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Inherited Neuropathy Consortium RCV000857109 SCV001190037 likely benign Charcot-Marie-Tooth disease no assertion criteria provided provider interpretation

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