ClinVar Miner

Submissions for variant NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) (rs1478175861)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001288126 SCV001475018 uncertain significance not provided 2020-05-05 criteria provided, single submitter clinical testing
OMIM RCV000023712 SCV000045003 pathogenic Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 2011-07-12 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000790039 SCV000929429 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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