ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) (rs776404901)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000408641 SCV000484495 uncertain significance not provided 2015-09-25 criteria provided, single submitter clinical testing
Invitae RCV001378252 SCV001575786 likely pathogenic Charcot-Marie-Tooth disease, type 2 2014-04-07 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789387 SCV000928742 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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