ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) (rs104894623)

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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 RCV001173915 SCV001337032 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000008956 SCV000029168 pathogenic Hereditary liability to pressure palsies 2003-06-10 no assertion criteria provided literature only

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