ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1132T>C (p.Ser378Pro) (rs1569854381)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001288127 SCV001475019 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790009 SCV000929399 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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