ClinVar Miner

Submissions for variant NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) (rs142117467)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651182 SCV000773033 likely benign Distal hereditary motor neuronopathy 2D 2019-12-31 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV001027484 SCV001190057 likely pathogenic Charcot-Marie-Tooth disease no assertion criteria provided provider interpretation

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