ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) (rs61491953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174358 SCV001337495 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057130 SCV000088243 not provided not provided no assertion provided not provided

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