ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.19_20del (p.Ser7fs) (rs587776691)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008950 SCV000029160 pathogenic Hereditary liability to pressure palsies 2007-07-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789529 SCV000928885 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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