ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008956 SCV000029168 pathogenic Hereditary liability to pressure palsies 2003-06-10 no assertion criteria provided literature only

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